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

Zhao, H, Qin, Y, Kovanci, E et al. (2007). Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure . 88(5), 1474-1476. 10.1016/j.fertnstert.2007.01.021

cited authors

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

fiu authors

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. © 2007 American Society for Reproductive Medicine.

publication date

  • November 1, 2007

Digital Object Identifier (DOI)

start page

  • 1474

end page

  • 1476

volume

  • 88

issue

  • 5