GDF9 Mutation Analyses in 100 Chinese Women with Premature Ovarian Failure(POF)
作者单位：Department of Obstetrics and Gynecology
会议名称：《第一届中华医学会生殖医学分会、中国动物学会生殖生物学分会联合年会》
会议日期：2007年
学科分类：1002[医学-临床医学] 100211[医学-妇产科学] 10[医学]
关 键 词：Premature Ovarian Failure Growth Differentiation Factor 9 Mutation Single Nucleotide Polymorphism
摘 要：We screened growth differentiation factor 9(GDF9)coding regions for mutations in a Chinese sample of 100 women with premature ovarian failure(POF)and discovered 4 novel SNPs: c.436CT(***146Cys),c.588AC(silent),c.712AG(***238A1a)and c.1283GC(***428Thr). Non-synonymous SNPs c.436CT and c.1283GC were also detected in the control *** c.712AG perturbation results in a missense mutation(***238A1a)and was not present in any of 96 *** of the hydrophobic amino acid residue alanine for hydrophilic threonine may disrupt GDF9 function.