This article is a US Government work, and, as such, is in the public domain in the United States of America.
Special Research Article
DHPLC screening of cystic fibrosis gene mutations †
Article first published online: 18 MAR 2002
Published 2002 Wiley-Liss, Inc.
Volume 19, Issue 4, pages 374–383, April 2002
How to Cite
Ravnik-Glavač, M., Atkinson, A., Glavač, D. and Dean, M. (2002), DHPLC screening of cystic fibrosis gene mutations . Hum. Mutat., 19: 374–383. doi: 10.1002/humu.10065
- Issue published online: 18 MAR 2002
- Article first published online: 18 MAR 2002
- 2000. Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. Am J Hum Genet 67:1428–1436. .
- 1994. Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes. Hum Genet 93:447–451. .
- 1999. Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2. Ann Hum Genet 63:383–391. .
- 1990. The cystic fibrosis gene: isolation and significance. Hosp Pract (Off Ed) 25:47–57. .
- 2001. Using CCM and DHPLC to detect mutations in the glucocorticoid receptor in atherosclerosis: a comparison. J Biochem Biophys Methods 47:91–100. .
- 1998. Optimized detection of DNA point mutations by double gradient denaturing gradient gel electrophoresis. Clin Chem Lab Med 36:959–961. .
- 2000. Recommendations for quality improvement in genetic testing for cystic fibrosis. European Concerted Action on Cystic Fibrosis. Eur J Hum Genet Suppl 2:S2–24. .
- 2000. Denaturing high-performance liquid chromatography is a suitable method for PMM2 mutation screening in carbohydrate-deficient glycoprotein syndrome type IA patients. Genet Test 4:293–297. .
- 1996. Complexity in a monogenic disease. Nat Genet 12:348–350. .
- 1997. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The biomed CF mutation analysis consortium. Hum Mutat 10:135–154. .
- 2000. Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays. Hum Mutat 16:176–177. .
- 2000. Screening methods for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in non-human primates. Pflugers Arch 439(Suppl 3):R12–R13. .
- 2001. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 3:149–154. .
- 2001. Cystic fibrosis population carrier screening: here at last—are we ready? Genet Med 3:87–90. .
- 1999. A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC. Hum Genet 105:72–78. .
- 1999. Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis. Clin Chem 45:1133–1140. .
- 2000. Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis. Hum Genet 106:663–668. .
- 1992. Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation. Hum Mol Genet 1:11–17. .
- 2000. Novel method for molecular detection of the two common hereditary hemochromatosis mutations. Genet Test 4:125–129. .
- 2000. Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography. Prenat Diagn 20:765–768. .
- 2001. Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling. Hum Genet 108:290–288. .
- 1998. Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations. Nucleic Acids Res 26:1396–1400. .
- 1997. Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%. Am J Hum Genet 60:1122–1127. .
- 1999. Screening for cystic fibrosis carrier state. Obstet Gynecol 93:456–461. .
- National Institutes of Health Consensus Development Conference. 1999. Statement on genetic testing for cystic fibrosis. Arch Intern Med 159:1529–1539.
- 2001. Random mutagenesis-PCR to introduce alterations into defined DNA sequences for validation of SNP and mutation detection methods. Hum Mutat 17:210–219. .
- 1994. Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene. Hum Mol Genet 3:801–807. .
- 1989. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245:1066–1073. .
- 2000. Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients. Hum Mutat 16:177. .
- 1997. Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography. Genome Res 7:996–1005. .
- 2000. Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. Kidney Int 58:1870–1875. .
- 1990. Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis. Hum Genet 85:446–449. .
- 2001. Denaturing high-performance liquid chromatography: a review. Hum Mutat 17:439–474. .
- 1991. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 10:214–228. .