A preliminary study of copy number variation in Tibetans

Genetic features of Tibetans have been broadly investigated, but the properties of copy number variation (CNV) have not been well examined. To get a preliminary view of CNV in Tibetans, we scanned 29 Tibetan genomes with the Illumina Human-1 M high-resolution genotyping microarray and identified 139...

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Bibliographic Details
Published in:PloS one 2012-07, Vol.7 (7), p.e41768-e41768
Main Authors: Zhang, Yong-Biao, Li, Xin, Zhang, Feng, Wang, Duen-Mei, Yu, Jun
Format: Article
Language:English
Subjects:
Adaptation
Adaptation, Physiological - genetics
Algorithms
Alleles
Altitude
Asian Continental Ancestry Group - genetics
Biological activity
Biology
Birth weight
Chromosomes
Copy number
Deoxyribonucleic acid
Direct reduction
Disease
DNA
DNA Copy Number Variations - genetics
DNA Copy Number Variations - physiology
DNA damage
DNA microarrays
DNA repair
Female
Frequency distribution
Gene clusters
Gene expression
Gene frequency
Genes
Genetic disorders
Genetic diversity
Genetic Predisposition to Disease - genetics
Genomes
Genomics
Genotyping
High altitude
High-altitude environments
Histocompatibility antigen HLA
HLA antigens
Humans
Infertility
Laboratories
Male
Minority & ethnic groups
Population genetics
Pregnancy
Rad52 protein
Skin
Studies
Tibet
Xin Li
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Summary:Genetic features of Tibetans have been broadly investigated, but the properties of copy number variation (CNV) have not been well examined. To get a preliminary view of CNV in Tibetans, we scanned 29 Tibetan genomes with the Illumina Human-1 M high-resolution genotyping microarray and identified 139 putative copy number variable regions (CNVRs), consisting of 70 deletions, 61 duplications, and 8 multi-allelic loci. Thirty-four of the 139 CNVRs showed differential allele frequencies versus other East-Asian populations, with P values
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0041768