Human Diallelic Insertion/deletion Polymorphisms

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 2002 Sep 3

PMID 12205564

Citations 118

Authors

James L Weber

Donna David

Jeremy Heil

Ying Fan

Chengfeng Zhao

Gabor Marth

Affiliations

Soon will be listed here.

Abstract

We report the identification and characterization of 2,000 human diallelic insertion/deletion polymorphisms (indels) distributed throughout the human genome. Candidate indels were identified by comparison of overlapping genomic or cDNA sequences. Average confirmation rate for indels with a > or =2-nt allele-length difference was 58%, but the confirmation rate for indels with a 1-nt length difference was only 14%. The vast majority of the human diallelic indels were monomorphic in chimpanzees and gorillas. The ratio of deletionrcolon;insertion mutations was 4.1. Allele frequencies for the indels were measured in Europeans, Africans, Japanese, and Native Americans. New alleles were generally lower in frequency than old alleles. This tendency was most pronounced for the Africans, who are likely to be closest among the four groups to the original modern human population. Diallelic indels comprise approximately 8% of all human polymorphisms. Their abundance and ease of analysis make them useful for many applications.

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