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Polymorphic inversions, deletions, and duplications in gene mapping

Part 1. Genetics

1.4. Gene Mapping

Short Specialist Review

  1. Susan L. Christian

Published Online: 15 JUL 2005

DOI: 10.1002/047001153X.g104310

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

How to Cite

Christian, S. L. 2005. Polymorphic inversions, deletions, and duplications in gene mapping. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 1:1.4:55.

Author Information

  1. University of Chicago, Chicago, IL, USA

Publication History

  1. Published Online: 15 JUL 2005

Abstract

The underlying architecture of the human genome contains segmental duplications that predispose to the formation of inversions, deletions, and duplications. The effects of these chromosomal aberrations on gene mapping are multifold. Inversions may disrupt disease genes, while deletions and duplications produce genomic imbalances that may affect dosage of disease genes. These anomalies are not readily detected using standard linkage and association analyses. Current studies are ongoing to develop methods to detect gene dosage using high-density SNP genotyping, while other studies are cataloging the copy number polymorphisms present in the genome. Determining whether these polymorphisms are benign or provide susceptibility to complex diseases will be an important question for future studies.

Keywords:

  • polymorphism;
  • inversion;
  • deletion;
  • duplication;
  • linkage;
  • association