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    Fertil Steril. 2007 Nov;88(5):1474-6. Epub 2007 May 7.

    Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure.

    Zhao H, Qin Y, Kovanci E, Simpson JL, Chen ZJ, Rajkovic A.

    Source

    Center for Reproductive Medicine, Shandong Provincial Hospital, Shandong University, Jinan, China.

    Abstract

    We screened growth differentiation factor 9 coding regions for mutations in a Chinese sample of 100 women with premature ovarian failure and discovered four novel single-nucleotide polymorphisms: c.436C>T (p.Arg146Cys), c.588A>C (silent), c.712A>G (p.Thr238Ala), and c.1283G>C (p.Ser428Thr). Nonsynonymous single-nucleotide polymorphisms c.436C>T and c.1283G>C were also detected in the control population. The c.712A>G perturbation results in a missense mutation (p.Thr238Ala) and was not present in any of 96 controls. Substitution of the hydrophobic amino acid residue alanine for hydrophilic threonine may disrupt growth differentiation factor 9 function.

    PMID:
    17482612
    [PubMed - indexed for MEDLINE]
    PMCID:
    PMC2767161
    Free PMC Article

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