2004•Chinese Journal of Birth Health & HeredityRequires access

Analysis of SRY gene in 50 cases of sexual abnormal differentiation and development

Meiling Zheng

Abstract

Objective: In oder to assess the role of SRY gene in sexdetermination and development. Methods: Using the karyotype analysis ,PCR amplification and DNA sequencing techniques .We have analysed the SRYgene in the patients with sexual abnormal defferentiation and development. Results:(1)There was one XX female and one XX/XY female ,they had SRY. gene respectively .Eleven XY female showed a positive SRY.In six XY man and one XXY man,SRY was positive. One XX man hadn't SRYgene. (2)one case XX famale with SRY gene had a point mutation.One XY female had frmeshift mutation and point mutation.Conclusion:The analysis of SRY gene not only benefit studing the mechanism of sexual abnormality ,but also have directive meaning for the treatment.

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Key concepts: Testis determining factor, Karyotype, Biology, Point mutation, Y chromosome, Gene, Mutation, Gene mutation