Polymorphic inversions, deletions, and duplications in gene mapping
Part 1. Genetics
1.4. Gene Mapping
Short Specialist Review
Published Online: 15 JUL 2005
Copyright © 2005 John Wiley & Sons, Ltd
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.
- Published Online: 15 JUL 2005
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.