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Current approaches to molecular diagnosis

Part 1. Genetics

1.6. Genetic Medicine and Clinical Genetics

Specialist Review

  1. O. Thomas Mueller

Published Online: 15 JAN 2005

DOI: 10.1002/047001153X.g106211

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

How to Cite

Mueller, O. T. 2005. Current approaches to molecular diagnosis. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 1:1.6:72.

Author Information

  1. University of South Florida, St. Petersburg, FL, USA

Publication History

  1. Published Online: 15 JAN 2005


Inherited human disorders are caused by different types of mutations, including large genomic rearrangements such as chromosomal translocations or duplications and deletions of genome regions that are visible, using standard or high-resolution karyotyping procedures. Other rearrangements are smaller, but still encompass relatively large genome areas, such as the microdeletions that are readily detected using FISH technology. However, most disorders are caused by much smaller deletions, substitutions, or rearrangements of DNA that are identified by molecular genetic approaches. This review will summarize the current approaches to diagnostic techniques in a molecular genetic laboratory. A tabular listing of selected inherited syndromes identifies the genes and proteins associated with many syndromes, the types of mutations and common mutations, if any, detection methods, and their inheritance pattern. Special attention is given to disorders of complex etiology, such as those with a trinucleotide repeat expansion, which feature unusual inheritance patterns such as premutation alleles and genetic anticipation, and Prader–Willi and Angelman syndromes, which invoke genetic imprinting mechanisms.


  • molecular diagnosis;
  • mutation screening;
  • polymerase chain reaction;
  • DNA sequencing