Current Protocols in Human Genetics

Current Protocols in Human Genetics

Online ISBN: 9780471142904

DOI: 10.1002/0471142905

Archive


 

Current Protocols in Human Genetics Supplements

2014:    Supplement 82     Supplement 81     Supplement 80
2013:    Supplement 79     Supplement 78     Supplement 77     Supplement 76    
2012:    Supplement 75     Supplement 74     Supplement 73     Supplement 72    
2011:    Supplement 71     Supplement 70     Supplement 69     Supplement 68
2010:    Supplement 67     Supplement 66     Supplement 65     Supplement 64
2009:    Supplement 63     Supplement 62     Supplement 61     Supplement 60
2008:    Supplement 59     Supplement 58     Supplement 57     Supplement 56
2007:    Supplement 55     Supplement 54     Supplement 53     Supplement 52    
2006:    Supplement 51     Supplement 50     Supplement 49     Supplement 48    
2005:    Supplement 47     Supplement 46     Supplement 45     Supplement 44    
2004:    Supplement 43     Supplement 42     Supplement 41     Supplement 40    
2003:    Supplement 39     Supplement 38     Supplement 37     Supplement 36    
2002:    Supplement 35     Supplement 34     Supplement 33     Supplement 32    
2001:    Supplement 31     Supplement 30     Supplement 29     Supplement 28    
2000:    Supplement 27     Supplement 26     Supplement 25     Supplement 24    
1999:    Supplement 23     Supplement 22     Supplement 21     Supplement 20    
1998:    Supplement 19     Supplement 18     Supplement 17     Supplement 16    
1997:    Supplement 15     Supplement 14     Supplement 13     Supplement 12    
1996:    Supplement 11     Supplement 10     Supplement 9       Supplement 8      
1995:    Supplement 7       Supplement 6       Supplement 5       Supplement 4      
1994:    Supplement 3       Supplement 2       Supplement 1       Core publication




  Supplement 82, July 2014

Unit 7.24 Digital Droplet PCR: CNV Analysis and Other Applications
         Abstract | Full Text:  HTML   PDF

Unit 8.2 Quality Assurance and Quality Control in Clinical Cytogenetics
         Abstract | Full Text:  HTML   PDF

Unit 15.4 ENU Mutagenesis in the Mouse
         Abstract | Full Text:  HTML   PDF

Unit 17.15 Diagnosis of Lysosomal Storage Disorders: Gaucher Disease
         Abstract | Full Text:  HTML   PDF

Unit 18.8 Getting Started with Microbiome Analysis: Sample Acquisition to Bioinformatics
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 81, April 2014

Unit 6.14 Using VAAST to Identify Disease-Associated Variants in Next-Generation Sequencing Data
         Abstract | Full Text:  HTML   PDF

Unit 7.23 Using XHMM Software to Detect Copy Number Variation in Whole-Exome Sequencing Data
         Abstract | Full Text:  HTML   PDF

Unit 9.15 Genetic Tests: Clinical Validity and Clinical Utility
         Abstract | Full Text:  HTML   PDF

Unit 14.9 Mitochondrial Genome Interrogation for Forensic Casework and Research Studies
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 80, January 2014

Unit 7.21 Quantitative Analysis of Copy Number Variants Based on Real-Time LightCycler PCR
         Abstract | Full Text:  HTML   PDF

Unit 7.22 Design of Large-Insert Jumping Libraries for Structural Variant Detection Using Illumina Sequencing
         Abstract | Full Text:  HTML   PDF

Unit 9.5 Molecular Analysis of Fragile X Syndrome
         Abstract | Full Text:  HTML   PDF

Unit 9.7 Nonrandom X Chromosome Inactivation Detection
         Abstract | Full Text:  HTML   PDF

Unit 9.12 Internet Resources in Medical Genetics
         Abstract | Full Text:  HTML   PDF

Unit 12.5 Retroviral Vector Production
         Abstract | Full Text:  HTML   PDF

Unit 18.2 Improved Protocols for Illumina Sequencing
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 79, October 2013

Unit 1.27 Analyzing Copy Number Variation Using SNP Array Data: Protocols for Calling CNV and Association Tests
         Abstract | Full Text:  HTML   PDF

Unit 6.13 Genome-Scale Sequencing to Identify Genes Involved in Mendelian Disorders
         Abstract | Full Text:  HTML   PDF

Unit 9.24 Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing–Derived Variants for Clinical Diagnosis
         Abstract | Full Text:  HTML   PDF

Unit 17.14 Diagnosing Lysosomal Storage Disorders: Mucopolysaccharidosis Type II
         Abstract | Full Text:  HTML   PDF

Unit 18.2 Improved Protocols for Illumina Sequencing
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 78, July 2013

Unit 1.25 Genotype Imputation in Genome-Wide Association Studies
         Abstract | Full Text:  HTML   PDF

Unit 1.26 Identifying Rare Variants Associated with Complex Traits via Sequencing
         Abstract | Full Text:  HTML   PDF

Unit 2.9 Single Nucleotide Polymorphism Genotyping Using BeadChip Microarrays
         Abstract | Full Text:  HTML   PDF

Unit 12.14 Oncolytic Adenoviruses: Design, Generation, and Experimental Procedures
         Abstract | Full Text:  HTML   PDF

Unit 13.9 Gene Delivery to the Airway
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 77, April 2013

Unit 1.24 Methods for Meta-Analysis of Genetic Data
         Abstract | Full Text:  HTML   PDF

Unit 9.22 Whole Genome Sequencing: A Considered Approach to Clinical Implementation
         Abstract | Full Text:  HTML   PDF

Unit 9.23 Management of Incidental Findings in Clinical Genomic Sequencing
         Abstract | Full Text:  HTML   PDF

Unit 17.13 Diagnosing Lysosomal Storage Disorders: Fabry Disease
         Abstract | Full Text:  HTML   PDF

Unit 20.2 Analysis of Epigenetic Modifications of DNA in Human Cells
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 76, January 2013

Unit 1.23 Overview of Admixture Mapping
         Abstract | Full Text:  HTML   PDF

Unit 4.15 A Multifaceted FISH Approach to Study Endogenous RNAs and DNAs in Native Nuclear and Cell Structures
         Abstract | Full Text:  HTML   PDF

Unit 7.20 Predicting Functional Effect of Human Missense Mutations Using PolyPhen-2
         Abstract | Full Text:  HTML   PDF

Unit 9.1 Overview of Molecular Genetic Diagnosis
         Abstract | Full Text:  HTML   PDF

Unit 17.12 Quantification of Glycosaminoglycans in Urine by Isotope-Dilution Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 75, October 2012

Unit 1.8 Model-Free Tests for Genetic Linkage
         Abstract | Full Text:  HTML   PDF

Unit 6.12 Discovery of Rare Homozygous Mutations from Studies of Consanguineous Pedigrees
         Abstract | Full Text:  HTML   PDF

Unit 7.19 A Survey of Copy-Number Variation Detection Tools Based on High-Throughput Sequencing Data
         Abstract | Full Text:  HTML   PDF

Unit 8.3 Preparation of Chorionic Villus Samples for Metaphase Chromosome Analysis and Chromosomal Microarray Analysis
         Abstract | Full Text:  HTML   PDF

Unit 17.11 Diagnosing Lysosomal Storage Disorders: Pompe Disease
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 74, July 2012

Unit 1.17 Population-Based Case-Control Association Studies
         Abstract | Full Text:  HTML   PDF

Unit 4.7 Morphology Antibody Chromosome Technique for Determining Phenotype and Genetic Status of the Same Cell
         Abstract | Full Text:  HTML   PDF

Unit 8.4 Preparation, Culture, and Analysis of Amniotic Fluid Samples
         Abstract | Full Text:  HTML   PDF

Unit 8.12 Oligonucleotide Microarrays for Clinical Diagnosis of Copy Number Variation and Zygosity Status
         Abstract | Full Text:  HTML   PDF

Unit 14.7 Molecular Analysis of the Human Mitochondrial DNA Control Region for Forensic Identity Testing
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 73, April 2012

Unit 1.22 Methods for Detecting and Correcting for Population Stratification
         Abstract | Full Text:  HTML   PDF

Unit 9.13 Searching Online Mendelian Inheritance in Man (OMIM) for Information on Genetic Loci Involved in Human Disease
         Abstract | Full Text:  HTML   PDF

Unit 10.2 Metaphase Harvest and Cytogenetic Analysis of Malignant Hematological Specimens
         Abstract | Full Text:  HTML   PDF

Unit 11.12 High-Throughput Multiplex Sequencing of miRNA
         Abstract | Full Text:  HTML   PDF

Unit 18.7 Searching for Non-B DNA-Forming Motifs Using nBMST (Non-B DNA Motif Search Tool)
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 72, January 2012

Unit 1.1 Collection of Clinical and Epidemiological Data for Genetic Linkage and Association Studies
         Abstract | Full Text:  HTML   PDF

Unit 1.10 Identifying Functional Annotation for Noncoding Genomic Sequences
         Abstract | Full Text:  HTML   PDF

Unit 8.14 Interpretation of Genomic Copy Number Variants Using DECIPHER
         Abstract | Full Text:  HTML   PDF

Unit 9.16 Molecular Diagnosis of Hearing Loss
         Abstract | Full Text:  HTML   PDF

Unit 17.10 Determination of Sialylated and Neutral Oligosaccharides in Urine by Mass Spectrometry
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 71, October 2011

Unit 1.20 Strategies for Pathway Analysis from GWAS Data
         Abstract | Full Text:  HTML   PDF

Unit 1.21 Using the PhenX Toolkit to Add Standard Measures to a Study
         Abstract | Full Text:  HTML   PDF

Unit 6.10 Searching NCBI Databases Using Entrez
         Abstract | Full Text:  HTML   PDF

Unit 18.6 The UCSC Genome Browser
         Abstract | Full Text:  HTML   PDF

Unit 19.8 Next Generation Sequencing to Characterize Mitochondrial Genomic DNA Heteroplasmy
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 70, July 2011

Unit 1.14 Analysis of Gene-Gene Interactions
         Abstract | Full Text:  HTML   PDF

Unit 17.1 An Overview of Biochemical Genetics
         Abstract | Full Text:  HTML   PDF

Unit 17.9 Diagnosis of Copper Transport Disorders
         Abstract | Full Text:  HTML   PDF

Appendix 1D Reporting of Diagnostic Cytogenetic Results
         Abstract | Full Text:  HTML   PDF

Appendix 2F Testing Hygrometers Used in Cytogenetics Laboratories for Metaphase Preparation
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 69, April 2011

Unit 6.11 Disease and Phenotype Data at Ensembl
         Abstract | Full Text:  HTML   PDF

Unit 7.18 Targeted Sequencing Using Affymetrix CustomSeq Arrays
         Abstract | Full Text:  HTML   PDF

Unit 9.2 Quality Assurance and Quality Improvement in U.S. Clinical Molecular Genetic Laboratories
         Abstract | Full Text:  HTML   PDF

Unit 18.5 Using the NCBI Map Viewer to Browse Genomic Sequence Data
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 68, January 2011

Unit 1.3 Strategies for Genotyping
         Abstract | Full Text:  HTML   PDF

Unit 1.19 Control Procedures for Genome-Wide Association Studies
         Abstract | Full Text:  HTML   PDF

Unit 19.6 Analysis of Mitochondrial DNA Point Mutation Heteroplasmy by ARMS Quantitative PCR
         Abstract | Full Text:  HTML   PDF

Unit 19.7 Real-Time Quantitative PCR Analysis of Mitochondrial DNA Content
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 67, October 2010

Unit 2.13 CNV Analysis Using TaqMan Copy Number Assays
         Abstract | Full Text:  HTML   PDF

Unit 8.10 Diagnosis of Cryptic Chromosomal Syndromes by Fluorescence In Situ Hybridization (FISH)
         Abstract | Full Text:  HTML   PDF

Unit 10.4 Molecular Analysis of Gene Rearrangements and Mutations in Acute Leukemias and Myeloproliferative Neoplasms
         Abstract | Full Text:  HTML   PDF

Appendix 1D Reporting of Diagnostic Cytogenetic Results
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 66, July 2010

Unit 1.16 Informed Consent for Genetic Research
         Abstract | Full Text:  HTML   PDF

Unit 9.21 The Application of Computer-Based Tools in Obtaining the Genetic Family History
         Abstract | Full Text:  HTML   PDF

Unit 18.3 Targeted Enrichment of Specific Regions in the Human Genome by Array Hydridization
         Abstract | Full Text:  HTML   PDF

Unit 18.4 Targeted Exon Sequencing by In-Solution Hybrid Selection
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 65, April 2010

Unit 4.14 Application of Nexus Copy Number Software for CNV Detection and Analysis
         Abstract | Full Text:  HTML   PDF

Unit 10.14 Molecular Analysis of Genetic Markers for Non-Hodgkin Lymphomas
         Abstract | Full Text:  HTML   PDF

Unit 11.11 Digital Gene Expression by Tag Sequencing on the Illumina Genome Analyzer
         Abstract | Full Text:  HTML   PDF

Unit 20.1 Comprehensive High-Throughput Arrays for Relative Methylation (CHARM)
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 64, January 2010

Unit 1.9 Overview of Linkage Analysis in Complex Traits
         Abstract | Full Text:  HTML   PDF

Unit 9.10 Single-Cell DNA and FISH Analysis for Application to Preimplantation Genetic Diagnosis
         Abstract | Full Text:  HTML   PDF

Unit 10.13 Identifying Mutations for MYH-Associated Polyposis
         Abstract | Full Text:  HTML   PDF

Unit 17.8 Acylcarnitine Analysis by Tandem Mass Spectrometry
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 63, October 2009

Unit 9.5 Molecular Analysis of Fragile X Syndrome
         Abstract | Full Text:  HTML   PDF

Unit 19.2 Histochemical Methods for the Diagnosis of Mitochondrial Diseases
         Abstract | Full Text:  HTML   PDF

Unit 19.3 Evaluation of the Mitochondrial Respiratory Chain and Oxidative Phosphorylation System Using Polarography and Spectrophotometric Enzyme Assays
         Abstract | Full Text:  HTML   PDF

Unit 19.4 Evaluation of the Mitochondrial Respiratory Chain and Oxidative Phosphorylation System Using Blue Native Gel Electrophoresis
         Abstract | Full Text:  HTML   PDF

Unit 19.5 Evaluation of the Mitochondrial Respiratory Chain and Oxidative Phosphorylation System Using Yeast Models of OXPHOS Deficiencies
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 62, July 2009

Unit 9.12 Internet Resources in Medical Genetics
         Abstract | Full Text:  HTML   PDF

Unit 9.17 Bone Marrow Engraftment Studies
         Abstract | Full Text:  HTML   PDF

Unit 18.2 Improved Protocols for the Illumina Genome Analyzer Sequencing System
         Abstract | Full Text:  HTML   PDF

Unit 19.1 Analysis of Oxidative Damage by Gene-Specific Quantitative PCR
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 61, April 2009

Unit 7.17 An Overview of Custom Array Sequencing
         Abstract | Full Text:  HTML   PDF

Unit 9.6 Analysis of Repetitive Regions in Myotonic Dystrophy Type 1 and 2
         Abstract | Full Text:  HTML   PDF

Unit 10.6 Methylation-Specific PCR
         Abstract | Full Text:  HTML   PDF

Unit 10.12 Genetic Testing for Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
         Abstract | Full Text:  HTML   PDF

Unit 18.1 Methods for Generating Shotgun and Mixed Shotgun/Paired-End Libraries for the 454 DNA Sequencer
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 60, January 2009

Unit 2.12 SNP Genotyping Using the Sequenom MassARRAY iPLEX Platform
         Abstract | Full Text:  HTML   PDF

Unit 8.5 PolyPhred Analysis Software for Mutation Detection from Fluorescence-Based Sequence Data
         Abstract | Full Text:  HTML   PDF

Unit 9.15 Clinical Validity and Clinical Utility of Genetic Tests
         Abstract | Full Text:  HTML   PDF

Unit 9.19 Overview of Pharmacogenetics
         Abstract | Full Text:  HTML   PDF

Unit 9.20 Robust Dosage PCR (RD-PCR) for Highly Accurate Dosage Analysis
         Abstract | Full Text:  HTML   PDF

Unit 15.2 Use of Mouse Models for the Analysis of Human Disease
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 59, October 2008

Unit 1.14 Analysis of Gene-Gene Interactions
         Abstract | Full Text:  HTML   PDF

Unit 7.16 PolyPhred Analysis Software for Mutation Detection from Fluorescence-Based Sequence Data
         Abstract | Full Text:  HTML   PDF

Unit 8.13 Use of Affymetrix Mapping Arrays in the Diagnosis of Gene Copy Number Variation
         Abstract | Full Text:  HTML   PDF

Unit 17.7 Management and Quality Assurance in the Biochemical Genetics Laboratory
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 58, July 2008

Unit 1.12 Disease Associations and Family-Based Tests
         Abstract | Full Text:  HTML   PDF

Unit 8.12 Oligonucleotide Microarrays for Clinical Diagnosis of Copy Number Variation
         Abstract | Full Text:  HTML   PDF

Unit 11.10 High-Throughput Quantitative Real-Time PCR
         Abstract | Full Text:  HTML   PDF

Unit 17.6 Investigational Methods for Peroxisomal Disorders
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 57, April 2008

Unit 1.18 Calculation and Use of the Hardy-Weinberg Model in Association Studies
         Abstract | Full Text:  HTML   PDF

Unit 7.9 Mutation Detection Using Automated Fluorescence-Based Sequencing
         Abstract | Full Text:  HTML   PDF

Unit 10.10 p53 Testing for Li-Fraumeni and Li-Fraumeni-Like Syndrome
         Abstract | Full Text:  HTML   PDF

Unit 10.11 The Catalogue of Somatic Mutations in Cancer (COSMIC)
         Abstract | Full Text:  HTML   PDF

Appendix 2A Laboratory Safety
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 56, January 2008

Unit 2.10 Genotyping Using the TaqMan Assay
         Abstract | Full Text:  HTML   PDF

Unit 7.15 Selection of a Platform for Mutation Detection
         Abstract | Full Text:  HTML   PDF

Unit 13.7 Human Hematopoietic Cell Culture, Transduction, and Analyses
         Abstract | Full Text:  HTML   PDF

Unit 17.5 Diagnosis of Inherited Disorders of Galactose Metabolism
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 55, October 2007

Unit 3.6 Conversion Technology for the Separation of Maternal and Paternal Copies of Any Autosomal Chromosome in Somatic Cell Hybrids
         Abstract | Full Text:  HTML   PDF

Unit 8.2 Quality Assurance and Quality Control in Clinical Cytogenetics
         Abstract | Full Text:  HTML   PDF

Unit 10.1 Overview of Genetic Diagnosis in Cancer
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 54, July 2007

Unit 5.20 Fosmid Libraries for Genomic Structural Variation Detection
         Abstract | Full Text:  HTML   PDF

Unit 11.4 Analysis of Expression Data: An Overview
         Abstract | Full Text:  HTML   PDF

Unit 12.10 Production and Titration of Lentiviral Vectors
         Abstract | Full Text:  HTML   PDF

Unit 17.3 Quantification of Creatine and Guanidinoacetate Using GC-MS and LC-MS/MS for the Detection of Cerebral Creatine Deficiency Syndromes
         Abstract | Full Text:  HTML   PDF

Unit 17.4 Detection of Hypo- N -Glycosylation Using Mass Spectrometry of Transferrin
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 53, April 2007

Unit 5.19 Large-Scale BAC Clone Restriction Digest Fingerprinting
         Abstract | Full Text:  HTML   PDF

Unit 11.7 Serial Analysis of Gene Expression (SAGE): Experimental Method and Data Analysis
         Abstract | Full Text:  HTML   PDF

Unit 12.9 Production of Recombinant Adeno-Associated Viral Vectors
         Abstract | Full Text:  HTML   PDF

Appendix 3D Quantitation of DNA and RNA with Absorption and Fluorescence Spectroscopy
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 52, January 2007

Unit 1.17 Population-Based Case-Control Association Studies
         Abstract | Full Text:  HTML   PDF

Unit 5.18 Human Artificial Chromosome Assembly by Transposon-Based Retrofitting of Genomic BACs with Synthetic Alpha-Satellite Arrays
         Abstract | Full Text:  HTML   PDF

Unit 6.8 Using BLAST for Performing Sequence Alignment
         Abstract | Full Text:  HTML   PDF

Unit 8.8 Preparation of Cells from Formalin-Fixed, Paraffin-Embedded Tissue for Use in Fluorescence In Situ Hybridization (FISH) Experiments
         Abstract | Full Text:  HTML   PDF

Unit 12.7 Production of Vesicular Stomatitis Virus G Glycoprotein (VSV-G) Pseudotyped Retroviral Vectors
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 51, October 2006

Unit 6.10 Searching the NCBI Databases Using Entrez
         Abstract | Full Text:  HTML   PDF

Unit 7.14 MLPA and MAPH: Sensitive Detection of Deletions and Duplications
         Abstract | Full Text:  HTML   PDF

Unit 13.3 Ex Vivo and In Vivo Gene Delivery to the Brain
         Abstract | Full Text:  HTML   PDF

Unit 17.2 Chromatographic Analysis of Amino and Organic Acids in Physiological Fluids to Detect Inborn Errors of Metabolism
         Abstract | Full Text:  HTML   PDF

Appendix 3G Techniques for Mammalian Cell Tissue Culture
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 50, July 2006

Unit 9.12 Internet Resources in Medical Genetics
         Full Text:  HTML   PDF

Unit 10.8 Detecting Mutations in the APC Gene in Familial Adenomatous Polyposis (FAP)
         Abstract | Full Text:  HTML   PDF

Unit 10.9 EGF Receptor Testing for Non-Small Cell Lung Carcinomas
         Abstract | Full Text:  HTML   PDF

Unit 12.1 Biosafety in Handling Gene Transfer Vectors
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 49, April 2006

Unit 5.17 Selective Isolation of Mammalian Genes by TAR Cloning
         Abstract | Full Text:  HTML   PDF

Unit 9.3 Multiplex PCR for Identifying DMD Gene Deletions
         Abstract | Full Text:  HTML   PDF

Unit 9.19 Overview of Pharmacogenetics
         Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 48, January 2006

Unit 1.7 Use of LINKAGE Programs for Linkage Analysis
         Abstract | Full Text:  HTML   PDF

Unit 7.10 DNA Mutation Detection Using Denaturing High-Performance Liquid Chromatography (DHPLC)
         Abstract | Full Text:  HTML   PDF

Unit 9.1 Overview of Molecular Genetic Diagnosis
         Abstract | Full Text:  HTML   PDF

Unit 15.1 Overview of Model Systems for the Analysis of Human Disease
         Abstract | Full Text:  HTML   PDF

Unit 15.6 Yeast as a Model for Human Disease
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 47, October 2005

Unit 1.3 Strategies for Genotype Generation
         Abstract | Full Text:  HTML   PDF

Unit 1.16 Informed Consent for Genetic Research
         Full Text:  HTML   PDF

Unit 9.18 Infectious Diseases Testing
         Abstract | Full Text:  HTML   PDF

Unit 12.13 Helper-Dependent Adenoviral Vectors
         Abstract | Full Text:  HTML   PDF

Unit 17.1 An Overview of Biochemical Genetics
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 46, July 2005

Unit 1.15 Detecting Gene-Gene Interaction in Linkage Analysis
         Abstract | Full Text:  HTML   PDF

Unit 4.4 Microscopy and Image Analysis
         Abstract | Full Text:  HTML   PDF

Unit 4.13 The BAC Resource: Tools for Array CGH and FISH
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 45, January April 2005

Unit 4.1 Metaphase Chromosome Preparation from Cultured Peripheral Blood Cells
         Abstract | Full Text:  HTML   PDF

Unit 4.3 In Situ Hybridization to Metaphase Chromosomes and Interphase Nuclei
         Abstract | Full Text:  HTML   PDF

Unit 11.9 An Overview of Spotfire for Gene-Expression Studies
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 44, January 2005

Unit 4.5 High-Resolution FISH Analysis
         Abstract | Full Text:  HTML   PDF

Unit 4.7 Morphology Antibody Chromosome Technique for Determining Phenotype and Genotype of the Same Cell
         Abstract | Full Text:  HTML   PDF

Unit 7.11 Human Mutation Databases
         Abstract | Full Text:  HTML   PDF

Unit 11.8 Gene Expression Analysis of a Single or Few Cells
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 43, October 2004

Unit 9.16 Molecular Diagnosis of Hearing Loss
         Abstract | Full Text:  HTML   PDF

Unit 9.17 Bone Marrow Engraftment Studies
         Full Text:  HTML   PDF

Unit 12.13 Helper-Dependent Adenoviral Vectors
        Full Text:  HTML   PDF

Appendix 1D Reporting of Diagnostic Cytogenetic Results
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 42, July 2004

Unit 2.12 SNP Genotyping Using Sequenom MassARRAY 7K Platform
         Full Text:  HTML   PDF

Unit 4.12 Principles and Applications of PRINS in Cytogenetics
         Abstract | Full Text:  HTML   PDF

Unit 9.11 Protein Truncation Test
         Abstract | Full Text:  HTML   PDF

Unit 9.15 Clinical Validity and Clinical Utility of Genetic Tests
         Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 41, April 2004

Unit 1.10 Comparative Bioinformatics for Mouse and Human Genes: Getting Started
         Abstract | Full Text:  HTML   PDF

Unit 9.4 Simultaneous Detection of Multiple Point Mutations Using Allele-Specific Oligonucleotides
         Abstract | Full Text:  HTML   PDF

Unit 14.8 Short Tandem Repeat Analysis for Human Identity Testing
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 40, January 2004

Unit 1.1 Collection of Clinical and Epidemiological Data for Linkage Studies
         Abstract | Full Text:  HTML   PDF

Unit 6.10 Searching the NCBI Databases Using Entrez
        Full Text:  HTML   PDF

Unit 12.4 Adenoviral Vectors
         Abstract | Full Text:  HTML   PDF

Unit 15.5 Use of Chicken Models for the Analysis of Human Disease
         Abstract | Full Text:  HTML   PDF

Unit 16.1 Sample Preparation
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 39, October 2003

Unit 1.14 Analysis of Gene-Gene Interactions
         Full Text:  HTML   PDF

Unit 2.11 High-Throughput Genotyping with Primer Extension Fluorescent Polarization Detection
         Abstract | Full Text:  HTML   PDF

Unit 6.5 Grail EXP and Genome Analysis Pipeline for Genome Annotation
         Abstract | Full Text:  HTML   PDF

Unit 10.7 Constructing Tissue Microarrays for Research Use
         Abstract | Full Text:  HTML   PDF

Unit 15.4 ENU Mutagenesis in the Mouse
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 38, July 2003

Unit 1.12 Disease Associations and Family-Based Tests
         Full Text:  HTML   PDF

Unit 9.5 Molecular Analysis of Fragile X Syndrome
         Full Text:  HTML   PDF

Unit 9.14 Genotyping of Apolipoprotein E : Comparative Evaluation of Different Protocols
         Abstract | Full Text:  HTML   PDF

Unit 11.4 Analysis of Expression Data: An Overview
        Full Text:  HTML   PDF

Appendix 3N Proper Alignment and Adjustment of the Light Microscope
        Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 37, April 2003

Unit 7.11 Human Mutation Databases
        Full Text:  HTML   PDF

Unit 7.13 Mutation Nomenclature
         Abstract | Full Text:  HTML   PDF

Unit 8.7 Diagnosis of Fanconi Anemia by Diepoxybutane Analysis
         Abstract | Full Text:  HTML   PDF

Unit 13.2 DNA Vaccination
         Abstract | Full Text:  HTML   PDF

Appendix 3M Basic Statistics
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 36, January 2003

Unit 9.1 Overview of Molecular Genetic Diagnosis
        Full Text:  HTML   PDF

Unit 10.2 Metaphase Harvest and Cytogenetic Analysis of Malignant Hematological Specimens
         Abstract | Full Text:  HTML   PDF

Unit 11.7 Serial Analysis of Gene Expression (SAGE)
        Full Text:  HTML   PDF

Appendix 3L Introduction to Basic Mouse Handling Techniques
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 35, October 2002

Unit 7.9 Heterozygote Detection Using Automated Fluorescence-Based Sequencing
         Full Text:  HTML   PDF

Unit 8.2 Quality Assurance and Quality Control in Clinical Cytogenetics
         Full Text:  HTML   PDF

Unit 9.7 Detection of Nonrandom X Chromosome Inactivation
         Abstract | Full Text:  HTML   PDF

Unit 9.13 Searching Online Mendelian Inheritance in Man ( OMIM ) for Information for Genetic Loci Involved in Human Disease
         Abstract | Full Text:  HTML   PDF

Unit 12.1 Biosafety in Handling Gene Transfer Vectors
        Full Text:  HTML   PDF

Appendix 1C Human and Mouse Gene Nomenclature
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 34, July 2002

Unit 4.11 Single-Nucleotide Sequence Discrimination In Situ Using Padlock Probes
         Abstract | Full Text:  HTML   PDF

Unit 4.12 Principles and Applications of PRINS in Cytogenetics
        Full Text:  HTML   PDF

Unit 6.9 Accessing the Human Genome
         Abstract | Full Text:  HTML   PDF

Unit 9.2 Quality Assurance and Quality Control in Diagnostic Molecular Biology
         Abstract | Full Text:  HTML   PDF

Unit 15.3 Use of Zebrafish Models for the Analysis of Human Disease
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 33, April 2002

Unit 12.2 Semliki Forest Virus and Sindbis Virus Vectors
         Abstract | Full Text:  HTML   PDF

Unit 12.11 Construction of Replication-Defective Herpes Simplex Virus Vectors
         Abstract | Full Text:  HTML   PDF

Unit 12.12 Gene Delivery Using Helper Virus–Free HSV-1 Amplicon Vectors
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 32, January 2002

Unit 1.6 Single-Sperm Typing
         Abstract | Full Text:  HTML   PDF

Unit 2.10 High-Throughput Genotyping Using the TaqMan Assay
         Full Text:  HTML   PDF

Unit 7.12 Single-Strand Conformation Polymorphism Analysis Using Capillary Electrophoresis
         Abstract | Full Text:  HTML   PDF

Unit 9.10 Single-Cell DNA and FISH Analysis for Application to Preimplantation Genetic Diagnosis
         Full Text:  HTML   PDF

Unit 15.2 Use of Mouse Models for the Analysis of Human Disease
         Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 31, October 2001

Unit 5.1 Pulsed-Field Gel Electrophoresis for Long-Range Restriction Mapping
         Abstract | Full Text:  HTML   PDF

Unit 13.1 Gene Transfer to Arteries
         Abstract | Full Text:  HTML   PDF

Unit 13.4 Gene Delivery to Muscle
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 30, August 2001

Unit 5.12 Introduction of Large Insert DNA into Mammalian Cells and Embryos
         Abstract | Full Text:  HTML   PDF

Unit 11.5 Differential Display of m RNA by PCR
         Abstract | Full Text:  HTML   PDF

Unit 11.6 One-Step Enzymatic Purification of PCR Products for Direct Sequencing
         Abstract | Full Text:  HTML   PDF

Appendix 3K Analysis of RNA by Northern Blot Hybridization
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 29, May 2001

Unit 1.2 Pedigree Selection and Information Content
         Abstract | Full Text:  HTML   PDF

Unit 6.6 Gene Identification: Methods and Considerations
         Abstract | Full Text:  HTML   PDF

Unit 8.1 Overview of Clinical Cytogenetics
         Abstract | Full Text:  HTML   PDF

Unit 9.12 Internet Resources in Medical Genetics
        Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 28, March 2001

Unit 1.7 Use of LINKAGE Programs for Linkage Analysis
        Full Text:  HTML   PDF

Unit 1.8 Model-Free Tests for Genetic Linkage
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 27, November 2000

Unit 2.9 Single-Nucleotide Polymorphism Genotyping Using Microarrays
         Abstract | Full Text:  HTML   PDF

Unit 6.8 Using BLAST for Performing Sequence Alignment
        Full Text:  HTML   PDF

Unit 11.3 Profiling Human Gene Expression with cDNA Microarrays
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 26, August 2000

Unit 12.10 Production and Titration of Lentiviral Vectors
        Full Text:  HTML   PDF

Unit 14.3 Isolation of DNA from Forensic Evidence
         Abstract | Full Text:  HTML   PDF

Unit 14.7 Molecular Analysis of the Human Mitochondrial DNA Control Region for Forensic Identity Testing
         Abstract | Full Text:  HTML   PDF

Appendix 2D Common Buffers, Media, and Stock Solutions
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 25, May 2000

Unit 3.5 Use of Commercially Available Radiation Hybrid Panels
         Abstract | Full Text:  HTML   PDF

Unit 4.10 Mitotic Chromosome Preparations from Mouse Cells for Karyotyping
         Abstract | Full Text:  HTML   PDF

Unit 6.7 Sequence Databases: Integrated Information Retrieval and Data Submission
         Abstract | Full Text:  HTML   PDF

Unit 11.2 Oligonucleotide Arrays for Expression Monitoring
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 24, February 2000

Unit 4.9 Multicolor Fluorescence In Situ Hybridization (FISH) Approaches for Simultaneous Analysis of the Entire Human Genome
         Abstract | Full Text:  HTML   PDF

Unit 8.11 Molecular Cytogenetic Analysis of Telomere Rearrangements
         Abstract | Full Text:  HTML   PDF

Unit 11.1 Genetic Analyses on DNA Microarrays
         Abstract | Full Text:  HTML   PDF

Appendix 3J Internet Basics for Biologists
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 23, November 1999

Unit 9.11 Protein Truncation Test
        Full Text:  HTML   PDF

Unit 12.9 Production of Recombinant Adeno-Associated Viral Vectors
        Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 22, August 1999

Unit 1.13 Human Mapping Databases
         Abstract | Full Text:  HTML   PDF

Unit 4.4 Microscopy and Image Analysis
        Full Text:  HTML   PDF

Unit 5.17 Selective Isolation of Mammalian Genes by TAR Cloning
        Full Text:  HTML   PDF

Unit 13.10 Gene Delivery to the Liver
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 21, May 1999

Unit 5.6 Screening Large-Insert Libraries by Hybridization
         Abstract | Full Text:  HTML   PDF

Unit 5.15 Construction of Bacterial Artificial Chromosome (BAC/PAC) Libraries
         Abstract | Full Text:  HTML   PDF

Appendix 2E Automation and Robotics for Genetic Analysis
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 20, February 1999

Unit 1.3 Strategies for Genotype Generation
        Full Text:  HTML   PDF

Unit 12.8 Liposome Vectors for In Vivo Gene Delivery
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 19, November 1998

Unit 7.10 DNA Mutation Detection Using Denaturing High-Performance Liquid Chromatography (DHPLC)
        Full Text:  HTML   PDF

Unit 14.6 Manual Methods for PCR-Based Forensic DNA Analysis
         Abstract | Full Text:  HTML   PDF

Appendix 3A References to Molecular Biology Techniques
         Abstract | Full Text:  HTML   PDF

Appendix 3B Isolation of Genomic DNA from Mammalian Cells
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 18, August 1998

Unit 13.9 Gene Delivery to the Airway
         Abstract | Full Text:  HTML   PDF

Unit 14.5 RFLP Analysis of Forensic DNA Samples with Single-Locus VNTR Genetic Markers
         Abstract | Full Text:  HTML   PDF

Appendix 4A Karyotyping
         Abstract | Full Text:  HTML   PDF

Appendix 4B ISCN Standard Idiograms
         Abstract | Full Text:  HTML   PDF

Appendix 5 Genetic Linkage Reference Maps: Access to Internet-Based Resources
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 17, May 1998

Unit 5.9 Deriving Probes From Large-Insert Clones by PCR Methods
         Abstract | Full Text:  HTML   PDF

Unit 7.5 Detection of Mutations by Denaturing Gradient Gel Electrophoresis
         Abstract | Full Text:  HTML   PDF

Appendix 4C ISCN Rules for Listing Chromosomal Rearrangements
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 16, February 1998

Unit 10.6 Methylation-Specific PCR
         Full Text:  HTML   PDF

Unit 14.4 Molecular Analysis of Paternity
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 15, November 1997

Unit 5.10 Constructing Contigs from Large-Insert Clones
         Abstract | Full Text:  HTML   PDF

Unit 7.3 Mismatch Detection Using Heteroduplex Analysis
         Abstract | Full Text:  HTML   PDF

Unit 7.4 Detection of Mutations by Single-Strand Conformation Polymorphism (SSCP) Analysis and SSCP-Hybrid Methods
         Abstract | Full Text:  HTML   PDF

Unit 14.1 Overview of Human Identity Testing and Forensic Genetics
         Abstract | Full Text:  HTML   PDF

Unit 14.2 Collecting and Handling Samples for Parentage and Forensics DNA-Based Genetic Testing
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 14, August 1997

Unit 2.8 Automated Fluorescent Genotyping
         Abstract | Full Text:  HTML   PDF

Unit 4.8 Chromosome Microdissection
         Abstract | Full Text:  HTML   PDF

Unit 7.2 Detection of Mutations by RNase Cleavage
         Abstract | Full Text:  HTML   PDF

Unit 8.10 Diagnosis of Microdeletion Syndromes by Fluorescence in situ Hybridization ( FISH )
         Abstract | Full Text:  HTML   PDF

Unit 13.7 Human Hematopoietic Cell Culture, Transduction, and Analyses
         Full Text:  HTML   PDF

Unit 13.8 Cancer Vaccines
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 13, May 1997

Unit 1.11 Homozygosity Mapping Using Pooled DNA
         Abstract | Full Text:  HTML   PDF

Unit 5.16 Navigating Public Physical Mapping Databases
         Abstract | Full Text:  HTML   PDF

Unit 9.9 Molecular Analysis of Oxidative Phosphorylation Diseases for Detection of Mitochondrial DNA Mutations
         Abstract | Full Text:  HTML   PDF

Unit 10.1 Overview of Genetic Diagnosis in Cancer
         Full Text:  HTML   PDF

Unit 12.7 Production of Pseudotype-Retroviral Vectors
        Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 12, February 1997

Unit 2.5 PCR Methods of Genotyping
         Abstract | Full Text:  HTML   PDF

Unit 7.8 Detection of Mutations by Fluorescence-Assisted Mismatch Analysis (FAMA)
         Abstract | Full Text:  HTML   PDF

Unit 12.6 Particle-Mediated Gene Delivery In Vivo and In Vitro
         Abstract | Full Text:  HTML   PDF

Unit 13.5 Methods for Cancer Gene Therapy
         Abstract | Full Text:  HTML   PDF

Unit 13.6 Development of Molecular Genetic Interventions for HIV Infection
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 11, November 1996

Unit 12.3 Preparation of Adenovirus-Polylysine-DNA Complexes
         Abstract | Full Text:  HTML   PDF

Unit 12.5 Production of Retroviral Vectors
         Abstract | Full Text:  HTML   PDF

Unit 13.3 Ex Vivo and In Vivo Gene Delivery to the Brain
        Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 10, August, 1996

Unit 2.6 Genotyping by Ligation Assays
         Abstract | Full Text:  HTML   PDF

Unit 9.10 Single-Cell DNA Analysis for Application to Preimplantation Genetic Diagnosis

Unit 12.1 Production of Recombinant Adeno-Associated Viral Vectors

Unit 12.2 Construction of Replication-Defective Herpes Simplex Virus Vectors

Unit 13.1 Gene Transfer to Arteries

Unit 13.2 DNA Vaccination

[ Top of Page ]



  Supplement 9, May 1996

Unit 1.4 Analysis of Genetic Linkage Data for Mendelian Traits
         Abstract | Full Text:  HTML   PDF

Unit 1.9 Overview of Linkage Analysis in Complex Traits
         Full Text:  HTML   PDF

Unit 1.10 Genetic Mapping of the Mouse
        Full Text:  HTML   PDF

Unit 5.3 Construction of Bacteriophage P1 Libraries with Large Inserts
         Abstract | Full Text:  HTML   PDF

Appendix 6 Human-Mouse Comparative Maps
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 8, February 1996

Unit 4.7 Morphology Antibody Chromosome Technique for Determining Phenotype and Genotype of the Same Cell
        Full Text:  HTML   PDF

Appendix 3I Preparation of DNA from Fixed, Paraffin-Embedded Tissue
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 7, November 1995

Unit 8.2 Quality Assurance and Quality Control in Clinical Cytogenetics

Unit 9.9 Detection of Mitochondrial DNA Mutations

Unit 11.3 Sequence Similarity Using the BLAST Family of Programs

Unit Human Mapping Databases

Appendix 2A Laboratory Safety
         Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 6, August 1995

Unit 4.6 Comparative Genomic Hybridization
         Abstract | Full Text:  HTML   PDF

Unit 5.14 Transfer of YAC Clones to New Hosts by Karyogamy-Deficient Mating
         Abstract | Full Text:  HTML   PDF

Unit 7.7 Mutation Detection by Cycle Sequencing
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 5, May 1995

Unit 5.13 Building Larger YACs by Recombination
         Abstract | Full Text:  HTML   PDF

Unit 8.9 Preparation of Amniocytes for Interphase Fluorescence In Situ Hybridization ( FISH )
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 4, February 1995

Unit 4.5 High-Resolution FISH Analysis
        Full Text:  HTML   PDF

Unit 11.1 Internet Basics for Biologists

Unit 11.2 Sequence Databases: Information Retrieval and Data Submission

Unit 11.3 Sequence Similarity Searching Using the BLAST Family of Programs

[ Top of Page ]



  Supplement 3, November 1994

Unit 5.11 Generating Subclones from Large-Insert Genomic Clones
         Abstract | Full Text:  HTML   PDF

Unit 6.1 Isolation of Exons from Cloned DNA by Exon Trapping
         Abstract | Full Text:  HTML   PDF

Unit 9.8 Amplification-Refractory Mutation System ( ARMS ) Analysis of Point Mutations
         Abstract | Full Text:  HTML   PDF

Appendix 1B Overview of Human Repetitive DNA Sequences
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 2, August 1994

Unit 8.6 Analysis of Sister-Chromatid Exchanges
         Abstract | Full Text:  HTML   PDF

Unit 8.8 Determination of Chromosomal Aneuploidy Using Paraffin-Embedded Tissue
        Full Text:  HTML   PDF

Unit 10.3 Metaphase Harvest and Cytogenetic Analysis of Solid Tumor Cultures
         Abstract | Full Text:  HTML   PDF

Unit 10.4 Molecular Analysis of DNA Rearrangements in Leukemias and Non-Hodgkin's Lymphomas
         Abstract | Full Text:  HTML   PDF

Unit 10.5 Molecular Analysis of Gene Amplification in Tumors
         Abstract | Full Text:  HTML   PDF

Appendix 3G Techniques for Mammalian Cell Tissue Culture
         Full Text:  HTML   PDF

Appendix 3H Establishment of Permanent Cell Lines by Epstein-Barr Virus Transformation
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]



  Supplement 1, May 1994

Unit 1.5 Construction of Reference Genetic Maps
         Abstract | Full Text:  HTML   PDF

Unit 2.7 Restriction Fragment Length Polymorphism Analysis
         Abstract | Full Text:  HTML   PDF

Unit 5.4 Construction of Chromosome Jumping and Linking Libraries in E. coli
         Abstract | Full Text:  HTML   PDF

Unit 9.6 Analysis of Trinucleotide Repeats in Myotonic Dystrophy
         Full Text:  HTML   PDF

[ Top of Page ]



  Core, 1994

Unit 1.1 Collection of Clinical and Epidemiological Data for Linkage Studies

Unit 1.2 Pedigree Selection and Information Content

Unit 1.3 Strategies for Genotype Generation

Unit 1.4 Analysis of Genetic Linkage Data for Mendelian Traits

Unit 2.1 Construction of Small-Insert Libraries from Genomic DNA
         Abstract | Full Text:  HTML   PDF

Unit 2.2 Construction of Small-Insert Libraries Enriched for Short Tandem Repeat Sequences by Marker Selection
         Abstract | Full Text:  HTML   PDF

Unit 2.3 Colony Hybridization to Screen for Microsatellites
         Abstract | Full Text:  HTML   PDF

Unit 2.4 Characterization of ( CA ) n Microsatellite Repeats from Large-Insert Clones
         Abstract | Full Text:  HTML   PDF

Unit 2.5 PCR Methods of Genotyping

Unit 2.6 Genotyping By Ligation Assays

Unit 3.1 Overview of Somatic Cell Hybrid Mapping
         Abstract | Full Text:  HTML   PDF

Unit 3.2 Construction of Somatic Cell Hybrids
         Abstract | Full Text:  HTML   PDF

Unit 3.3 Construction and Assay of Radiation Hybrids
         Abstract | Full Text:  HTML   PDF

Unit 3.4 Statistical Analysis of Radiation Hybrid Data
         Abstract | Full Text:  HTML   PDF

Unit 4.1 Chromosome Preparation from Cultured Peripheral Blood Cells
         Full Text:  HTML   PDF

Unit 4.2 Chromosome Banding Techniques
         Abstract | Full Text:  HTML   PDF

Unit 4.3 In Situ Hybridization to Metaphase Chromosomes and Interphase Nuclei
         Full Text:  HTML   PDF

Unit 4.4 Microscopy and Image Analysis

Unit 5.1 Pulsed-Field Gel Electrophoresis for Long-Range Restriction Mapping

Unit 5.2 Construction of YAC Libraries with Large Inserts
         Abstract | Full Text:  HTML   PDF

Unit 5.3 Construction of Bacteriophage P1 Libraries with Large Inserts

Unit 5.4 Construction of Chromosome Jumping and Linking Libraries in E. coli

Unit 5.5 Screening Large-Insert Libraries by PCR
         Abstract | Full Text:  HTML   PDF

Unit 5.6 Screening Large-Insert Libraries by Hybridization

Unit 5.7 Purification and Characterization of YACs Containing Large Inserts
         Abstract | Full Text:  HTML   PDF

Unit 5.8 Rescuing YAC-Insert Ends as E. coli Plasmids
         Abstract | Full Text:  HTML   PDF

Unit 6.1 Isolation of Exons from Cloned DNA by Exon Trapping

Unit 6.2 Identifying Transcribed Sequences in Arrayed Bacteriophage or Cosmid Libraries
         Abstract | Full Text:  HTML   PDF

Unit 6.3 Direct Selection of cDNAs Using Genomic Contigs
         Abstract | Full Text:  HTML   PDF

Unit 6.4 Identification of Intron/Exon Boundaries in Genomic DNA by Inverse PCR
         Abstract | Full Text:  HTML   PDF

Unit 7.1 Amplification of Sequences from Affected Individuals
         Abstract | Full Text:  HTML   PDF

Unit 7.2 Detection of Mutations by RNase Cleavage

Unit 7.3 Mismatch Detection Using Heteroduplex Analysis

Unit 7.4 Detection of Mutations by Single-Strand Conformation Polymorphismm (SSCP) Analysis and SSCP-Hybrid Methods

Unit 7.5 Detection of Mutations by Denaturing Gradient Gel Electrophoresis

Unit 7.6 Chemical Cleavage of Heteroduplex DNA to Identify Mutations
         Abstract | Full Text:  HTML   PDF

Unit 8.1 Overview of Clinical Cytogenetics

Unit 8.2 Quality Assurance and Quality Control in Clinical Cytogenetics

Unit 8.3 Preparation of Metaphase Spreads from Chorionic Villus Samples
         Abstract | Full Text:  HTML   PDF

Unit 8.4 Preparation, Culture, and Analysis of Amniotic Fluid Samples
         Abstract | Full Text:  HTML   PDF

Unit 8.5 Preparation and Culture of Products of Conception and Other Solid Tissues for Chromosome Analysis
         Full Text: HTML   PDF

Unit 8.6 Analysis of Sister-Chromatid Exchanges

Unit 8.7 Diagnosis of Fanconi Anemia by Diepoxybutane Analysis

Unit 9.1 Overview of Molecular Genetic Diagnosis

Unit 9.2 Quality Assurance and Quality Control in Diagnostic Molecular Biology

Unit 9.3 Multiplex PCR for Identifying Dysotrophin Gene Deletions
         Full Text:  HTML   PDF

Unit 9.4 Simultaneous Detection of Multiple Point Mutations Using Allele-Specific Oligonucleotides
         Full Text:  HTML   PDF

Unit 9.5 Molecular Analysis of Fragile X Syndrome

Appendix 1A Abbreviations Used in this Manual
         Abstract | Full Text:  HTML   PDF

Appendix 2A Laboratory Safety

Appendix 2B Centrifuges and Rotors
         Abstract | Full Text:  HTML   PDF

Appendix 2C Standard Laboratory Items
         Abstract | Full Text:  HTML   PDF

Appendix 3A References to Molecular Biology Techniques

Appendix 3B Isolation of Genomic DNA from Mammalian Cells

Appendix 3C Extraction and Precipitation of DNA
         Abstract | Full Text:  HTML   PDF

Appendix 3D Quantitation of DNA and RNA with Absorption and Fluorescence Spectroscopy
         Full Text:  HTML   PDF

Appendix 3E Enzymatic Labeling of DNA
         Abstract | Full Text:  HTML   PDF

Appendix 3F Denaturing Polyacrylamide Gel Electrophoresis
         Abstract | Full Text:  HTML   PDF

[ Top of Page ]

SEARCH