Mutation analysis of five candidate genes in Chinese patients with hypospadias.
作者： Yanping Wang , Qiang Li , Jiajie Xu , Qingjie Liu , Weiqiu Wang
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摘要: Hypospadias is the displacement of urethral meatus from tip glans to ventral side phallus. During fetal development, SRY, SOX9, WT1, SRD5A2 and AR are important at different stages in differentiation development male genital system. Mutations these genes impair masculinization may be associated with hypospadias. In order explore possibilities, we employed polymerase chain reaction direct sequencing analyze coding regions five 90 Chinese hypospadias patients. We found a total 16 mutations SRD5A2, WT1 24 Seven novel. No mutation was SRY or SOX9. SNP V89L statistically significant between patients controls. Our results indicated that were conclusion, frequently control androgen action metabolism, but seldom active early phase sex determination differentiation. AR, seem not only also micropenis.
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