Mutation analysis of the WNT4 gene in Han Chinese women with premature ovarian failure
Mutation analysis of the WNT4 gene in Han Chinese women with premature ovarian failure
Abstract Background The WNT4 gene plays an important role in female sex determination and differentiation. It also contributes to maintaining of the ovaries and the survival of follicles. Methods We sequenced the coding region and splice sites of WNT4 in 145 Han Chinese women with premature ovarian failure (POF) and 200 healthy controls. Results Only one novel variation, in Exon 2 (195C > T), was detected among the women with POF. However, this synonymous variation did not result in a change in amino acid sequence (65 Asp > Asp). No further variants were found in any of the samples. Conclusion Although we cannot provide any evidence that it is a possible disease-causing gene, this study is the first attempt to investigate the possible role of WNT4 in Han Chinese women with POF.
- Chinese Academy of Medical Sciences & Peking Union Medical College China (People's Republic of)
- Anhui Medical University China (People's Republic of)
- World Health Organization Switzerland
- NATIONAL RESEARCH INSTITUTE FOR FAMILY PLANNING China (People's Republic of)
- PEKING UNION MEDICAL COLLEGE China (People's Republic of)
Adult, QH471-489, Reproduction, DNA Mutational Analysis, Methodology, Gynecology and obstetrics, Luteinizing Hormone, Middle Aged, Primary Ovarian Insufficiency, Wnt Proteins, Young Adult, Endocrinology, Reproductive Medicine, Asian People, Wnt4 Protein, Case-Control Studies, RG1-991, Humans, Female, Genetic Predisposition to Disease, Follicle Stimulating Hormone, Developmental Biology
Adult, QH471-489, Reproduction, DNA Mutational Analysis, Methodology, Gynecology and obstetrics, Luteinizing Hormone, Middle Aged, Primary Ovarian Insufficiency, Wnt Proteins, Young Adult, Endocrinology, Reproductive Medicine, Asian People, Wnt4 Protein, Case-Control Studies, RG1-991, Humans, Female, Genetic Predisposition to Disease, Follicle Stimulating Hormone, Developmental Biology
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