Mutation Study Of Predisposing Genes For Chinese Women With Idiopathic Premature Ovarian Failure

Partâ… Analyses of FOXO3 mutation in Chinese women With idiopathic premature ovarian failureObjective The objective of the study is to verify the involvement of Foxo3 variations in a large POF population in Chinese.Methods Genetic screening of 114 unrelated patients with POF and 100 controls in Chinese.Result We screened Foxo3 coding regions for mutations in a Chinese sample of 114 women with premature ovarian failure and discovered five novel nonsynonymous single-nucleotide variants 71C>A ( p.Pro24His ), c.140C>T ( Pro47Lue ), c.184G>A ( p.Asp62Asn ), c.1652C>T (Ser551phe), c.1697C>G (p.Gly566Ala) which were not detected in the women of 100 controls. Conclusions We first have discovered five novel nonsynonymous mutations in the Foxo3 gene among 114 Chinese women with POF. None of them were present in the control population. These missense mutations may be potentially disease-associated for POF.Partâ…¡Analyses of foxl2 mutation in Chinese women with idiopathic premature ovarian failureObjective To investigate the association between gene foxl2 and premature ovarian failure .Methods Genetic screening of one hundred and eighteen patients and a Chinese family with six persons which was the BPES family reported in China..Result In this work,none mutation was found in the patients,and we revealed a common insertion mutation in FOXL2 gene in the Chinese family which was the BPES family reported in China.Conclusion The FOXL2 gene mutations are a rare occurrence in isolated POF cases and may not be involved in the pathogenesis of POF. Partâ…¢Analyses of nanos3 mutation in Chinese women with premature ovarian failureObjective To investigate that whether variations of gene NANOS3 were present in Chinese women with premature ovarian failureMethods sequencing the coding region of the gene in 100 POF patients and 100 controls in Chinese.Results Two known synonymous single-nucleotide polymorphisms (rs2016163 and rs897790) and a novel missense mutation c. 457C>T (p. Arg153Trp) in the conserved domain were discovered, the mutation was not present in any women of 100 controls.Conclusions Our findings is the first to suggest that NANOS3 is a potential candidate gene underlying premature ovarian failure.