Association of 8q22.3 locus in Chinese Han with idiopathic premature ovarian failure (POF)
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چکیده
منابع مشابه
Association of 8q22.3 locus in Chinese Han with idiopathic premature ovarian failure (POF).
Premature ovarian failure (POF) is a complex heritable disorder known to be caused by chromosomal abnormalities and to date a limited number of known mutations, often autosomal. We sought to identify additional genetic loci associated with POF by performing the first large-scale genome-wide association study (GWAS). GWAS, using Affymetrix SNP 6.0 chip, was conducted in an initial discovery set ...
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BACKGROUND The WNT4 gene plays an important role in female sex determination and differentiation. It also contributes to maintaining of the ovaries and the survival of follicles. METHODS We sequenced the coding region and splice sites of WNT4 in 145 Han Chinese women with premature ovarian failure (POF) and 200 healthy controls. RESULTS Only one novel variation, in Exon 2 (195C > T), was de...
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Premature ovarian failure (POF) is a heterogeneous disorder, defined as menopause under age 40 years. The prevalence is 1%; POF before age 30 years is much less common. Chromosomal causes have long been recognized - visible deletions of the X chromosome, 45,X/46,XX mosaicism, and autosomal rearrangements (balanced translocations). Toxins or iatrogenic causes (e.g., chemotherapeutic agents) are ...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2011
ISSN: 1460-2083,0964-6906
DOI: 10.1093/hmg/ddr462