BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure.
American Journal of Obstetrics and Gynecology(2008)
摘要
OBJECTIVE: Premature ovarian failure ( POF) is a heterogeneous group of diseases with amenorrhea before the age of 40 years and elevated gonadotropins. Recently, heterozygous mutations in the X-linked gene encoding bone morphogenetic protein-15 ( BMP15) have been identified as a possible cause of ovarian failure. STUDY DESIGN: Molecular analysis of BMP15, growth differentiation factor-9 ( GDF9), and follicle-stimulating hormone receptor (FSHR) in patients with ovarian failure. RESULTS: We can show that a BMP15 alteration, previously described as a mutation, is instead a polymorphism. A digenic inheritance of POF including BMP15 and FSHR is unlikely. Mutations in GDF9 could not be detected. CONCLUSION: Caution is recommended in the interpretation of BMP15 mutations in the context of POF.
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关键词
BMP15 gene,FSHR gene,GDF9 gene,premature ovarian failure
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