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A genome-wide survey of copy number variations in Han Chinese residing in Taiwan
- Source :
- Genomics. 94(4):241-246
- Publication Year :
- 2009
- Publisher :
- Elsevier BV, 2009.
-
Abstract
- Copy number variation (CNV) is a form of DNA sequence variation in the human genome. CNVs can affect expression of nearby and distant genes, and some of them might cause certain phenotypic differences. CNVs vary slightly in location and frequency among different populations. Because currently-available CNV information from Asian population was limited to fewer small-scale studies with only dozens of subjects, a high-resolution CNV survey was conducted using a large number of Han Chinese in this study. The Illumina HumanMap550K single-nucleotide polymorphism array was used to identify CNVs from 813 unrelated Han Chinese residing in Taiwan. A total of 365 CNV regions were identified in this population, and the average size of the CNV regions was 235 kb (covering a total of 2.86% of the human genome), and 67 (18.4%) were newly-discovered CNV regions. Two hundred and seventy-nine CNV regions (76%) were verified from 304 randomly-selected samples by Affymetrix 500K GeneChip and qPCR experiments. These regions contain 1029 genes, some of which are associated with diseases. Consistent with previous studies, most CNVs were rare structural variations in the human genome, and only 64 regions (17.5%) had a CNV allele frequency greater than 1%. Our discovery of 67 new CNV regions indicates that previous CNV coverage of the human genome is incomplete and there is diversity among different ethnic populations. The comprehensive knowledge of CNVs in the human genome is very important and useful in further genetic studies.
- Subjects :
- BeadChip
Population
CNV
Gene Dosage
Taiwan
Genomics
Genome-wide association study
Biology
Genome
Polymorphism, Single Nucleotide
Asian People
Gene Frequency
Databases, Genetic
Ethnicity
Genetics
Humans
Copy-number variation
education
Allele frequency
Alleles
Phylogeny
Oligonucleotide Array Sequence Analysis
education.field_of_study
Comparative Genomic Hybridization
Genome, Human
Data Collection
Han Chinese
Genetic Variation
DNA
eye diseases
CNIT
MicroRNAs
Genetics, Population
PennCNV
GeneChip
Human genome
Comparative genomic hybridization
Genome-Wide Association Study
Subjects
Details
- ISSN :
- 08887543
- Volume :
- 94
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- Genomics
- Accession number :
- edsair.doi.dedup.....0d44caf63ceaedb5e6d4f56652b0d3c5
- Full Text :
- https://doi.org/10.1016/j.ygeno.2009.06.004