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Identification of premature ovarian failure‐associated genes through whole‐genome genotyping with 100K SNPs
Author(s) -
Kang HyunJun,
Lee Seung Ku,
Cho SungWon,
Kim Hyun Jae,
Cha YunYi,
Kim Hyoun Geun,
Yun HongShik,
Kim Kyoung Yeon,
Bae Su Jin,
Kim Nam Keun,
Lee SookHwan,
Kwack KyuBum
Publication year - 2007
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.21.6.a1134
Subject(s) - premature ovarian failure , single nucleotide polymorphism , biology , genotyping , snp genotyping , genetics , snp array , haplotype , snp , microarray , international hapmap project , molecular inversion probe , genome wide association study , allele , gene , genotype , endocrinology , gene expression
The clinical criterion for premature ovarian failure (POF) is the cessation of menstruation before the age of 40. It is a primary ovarian defect characterized by absent menarche (primary amenorrhea) or premature depletion of ovarian follicles (secondary amenorrhea). The incidence of POF is about 2% of women during their reproductive life. POF is one of the well known complex genetic diseases. However, causative genes or genomic regions are in mist. By using exon‐centric 100K SNP microarray (Illumina¡ ¯ s Infinium Assay I), we performed the whole‐genome genotyping with POF and their matched controls. This microarray technology is based on the allele‐specific primer extension. One hundred and fifty‐two genes were associated with POF, including BCKDHB. Many of the genes we found were very new in the field of POF. This result may mean that unrevealed pathological pathways exist for POF. Many POF‐associated haplotypes and their tagging SNPs were identified, also. In this study we found POF associated genes and haplotype blocks by using 100K SNP chips. Determination of causative SNPs and their functional role in the pathogenesis of POF is under way.