Missense mutations in the BMP15 gene are associated with ovarian failure.

摘要: Premature ovarian failure (POF) is an unexplained amenorrhoea (>6 months) with raised levels of gonadotropins (FSH>40 U/L) occurring before the age 40 years. Recent studies have elucidated role oocyte derived growth factors (BMP15 and GDF9) in maintenance folliculogenesis, granulosa cell (GC) proliferation overall fertility. Our recently published work showed presence two rare missense variants GDF9 gene associated (Dixit et al. 2005, Menopause 12:749–754). The present case-control study has been structured to establish BMP15 germline status failure. Sequence analysis coding region was carried out a cohort women POF (n=133), primary (n=60), secondary (n=9) compared control females (n=197). This revealed total 18 gene, including 16 novel variants. These include one intronic variant, 3’ flanking silent 13 Eleven were only cases complete absence females. remaining viz. c.308A>G (p.Asn103Ser) c.788_789insTCT (p.Leu263_Arg264insLeu) both controls. variant significantly higher than controls (Fisher’s exact test, P=0.034). Three frequent c.-9C>G, c.308A>G, c.852C>T chosen for haplotyping. haplotype G-G-C found be (P=0.0075). In nutshell, highly etiology