Biology Faculty Articles

Title

Detecting High-Resolution Polymorphisms in Human Coding Loci by Combining PCR and Single-Strand Conformation Polymorphism (SSCP) Analysis

Document Type

Article

Publication Date

7-1991

Publication Title

American Journal of Human Genetics

ISSN

0002-9297

Volume

49

Issue/No.

1

First Page

106

Last Page

111

Abstract

A strategy is described that allows the development of polymorphic genetic markers to be characterized in individual genes. Segments of the 3' untranslated regions are amplified, and polymorphisms are detected by digestion with frequently cutting enzymes and with the detection of single-stranded conformation polymorphisms. This allows these genes, or DNA segments, to be placed on the linkage maps of human chromosomes. Polymorphisms in two genes have been identified using this approach. A HaeIII polymorphism was detected in the KIT proto-oncogene, physically assigned to chromosome 4q11-12. This polymorphism is linked to other chromosome 4p markers and is in linkage disequilibrium with a HindIII polymorphism previously described at this locus. We have also identified in the insulin-like growth factor1 receptor gene (IGF1R) a 2-bp deletion that is present at a frequency of .25 in the Caucasian population. Pedigree analysis with this insertion/deletion polymorphism placed the IGF1R gene at the end of the current linkage map of chromosome 15q, consistent with the physical assignment of 15q2526. Thus, polymorphisms in specific genes can be used to related the physical, genetic, and comparative maps of mammalian genomes and to simplify the testing of candidate genes for human diseases.

Comments

This material is in the public domain, and no copyright is claimed.

Additional Comments

Department of Health and Human Services contract #: N01-CO-74102

ORCID ID

0000-0001-7353-8301

ResearcherID

N-1726-2015