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Long contiguous stretches of homozygosity in the human genome
Author(s) -
Li LingHui,
Ho ShengFeng,
Chen ChienHsiun,
Wei ChunYu,
Wong WanChing,
Li LiYing,
Hung ShuenIu,
Chung WenHung,
Pan WenHan,
Lee MingTa M.,
Tsai FuuJen,
Chang ChingFen,
Wu JerYuarn,
Chen YuanTsong
Publication year - 2006
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.20399
Subject(s) - biology , genetics , genotyping , single nucleotide polymorphism , snp genotyping , population , genome , human genome , gene , snp array , genotype , demography , sociology
Single nucleotide polymorphisms (SNPs) are the most common sequence variation in the human genome; they have been successfully used in mapping disease genes and more recently in studying population genetics and cancer genetics. In a population‐based association study using high‐density oligonucleotide arrays for whole‐genome SNP genotyping, we discovered that in the genomes of unrelated Han Chinese, 34 out of 515 (6.6%) individuals contained long contiguous stretches of homozygosity (LCSHs), ranging in the size from 2.94 to 26.27 Mbp (10.22±5.95 Mbp). Four out of four (100%) Taiwan aborigines also demonstrated this genetic characteristic. The number of LCSH regions increased markedly in the offspring of consanguineous marriages. LCSH was also detected in Caucasian samples (11/42; 26.2%) and African American samples (2/42; 4.76%). A total of 26 LCSH regions were recurrently detected among Han Chinese, Taiwan aborigines, and Caucasians. DNA copy number determination by hybridization intensity analysis and real‐time quantitative PCR (qPCR) excluded deletion as the cause of LCSH. Our results suggest that LCSHs are common in the human genome of the outbred population and this genetic characteristic could have a significant impact on population genetics and disease gene studies. Hum Mutat 27(11), 1115–1121, 2006. © 2006 Wiley‐Liss, Inc.