國防研發產品名稱：Long Contiguous Stretches of Homozygosity in the Human
Genome
研發成果介紹：
Single nucleotide polymorphisms (SNPs) are the most common sequence variation in
the human genome and 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 thirty four out of 515 (6.6%) individuals contained long contiguous stretches
of homozygosity (LCSHs), with the size ranging from 2.94 Mbp 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
offsprings of consanguineous marriages. LCSH was also detected in Caucasian
samples (11 of 42, 26.2%) and African American samples (2 of 42, 4.76%).
Twenty-six 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 excluded deletion as the cause of
LCSH. Our results suggested 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. Human Mutation
2006;27(11):1115-1121.
國防研發產品圖檔
Distribution of LCSH in the human genome. The center position of each LCSH region on the
individual chromosome is indicated by the solid vertical bar. For regions that were identified in
more than one individual, the center position of the overlapping regions is presented. The
centromeric gaps are marked by the open rectangles.