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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2009.1
- 수록면
- 618 - 628 (11page)
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초록· 키워드
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To examine copy number variations among the Korean
population, we compared individual genomes with the
Korean reference genome assembly using the publicly
available Korean HapMap SNP 50 k chip data from 90
individuals. Korean individuals exhibited 123 copy
number variation regions (CNVRs) covering 27.2 mb,
equivalent to 1.0% of the genome in the copy number
variation (CNV) analysis using the combined criteria of
P value (P ＜ 0.01) and standard deviation of copy
numbers (SD ≥ 0.25) among study subjects. In contrast,
when compared to the Affymetrix reference genome
assembly from multiple ethnic groups, considerably
more CNVRs (n = 643) were detected in larger
proportions (5.0%) of the genome covering 135.1 mb
even by more stringent criteria (P ＜ 0.001 and SD ≥
0.25), reflecting ethnic diversity of structural variations
between Korean and other populations. Some
CNVRs were validated by the quantitative multiplex
PCR of short fluorescent fragment (QMPSF) method,
and then copy number invariant regions were detected
among the study subjects. These copy number invariant
regions would be used as good internal controls
for further CNV studies. Lastly, we demonstrated
that the CNV information could stratify even a single
ethnic population with a proper reference genome assembly
from multiple heterogeneous populations.
목차
등록된 정보가 없습니다.
참고문헌 (26)
참고문헌 신청
[학술지(정기간행물
Aitman TJ / 2006 / Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans / Nature 439 : 851 ~ 855
Akanchha Kesari / 2005 / Genotype-Phenotype correlation of SMN locus genes in spinal muscular atrophy patients from India / Experimental and Molecular Medicine 37 (3) : 147
Braude I / 2006 / Large scale copy number variation (CNV) at 14q12 is associated with the presence of genomic abnormalities in neoplasia / BMC Genomics 7 : 138 ~
Buckland PR / 2003 / Polymorphically duplicated genes: their relevance to phenotypic variation in humans / Ann Med 35 : 308 ~ 315
Aitman TJ / 2006 / Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans / Nature 439 : 851 ~ 855
Akanchha Kesari / 2005 / Genotype-Phenotype correlation of SMN locus genes in spinal muscular atrophy patients from India / Experimental and Molecular Medicine 37 (3) : 147
Braude I / 2006 / Large scale copy number variation (CNV) at 14q12 is associated with the presence of genomic abnormalities in neoplasia / BMC Genomics 7 : 138 ~
Buckland PR / 2003 / Polymorphically duplicated genes: their relevance to phenotypic variation in humans / Ann Med 35 : 308 ~ 315
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