Analysis of SRY Gene in 8 Cases of Sex Abnormality

Abstract

In order to investigate the relationship between sex dysplasia and sex determining region Y (SRY) gene, 8 patients with sexual abnormality were analyzed by cytogentic and molecular genetic methods. Fluorescencein situ hybridization (FISH) using PY3, 4, X alpha satellite, and SRY probes was performed in each ease to analyze the sex chromosome translocation and gene translocation. SRY gene was amplified by polymerase chain reaction (PCR) and its mutation was detected by direct sequencing. The results showed that among 8 patients, 5 were positive for SRY and the remaining negative for SRY. In the patients positive for SRY genes, 3 presented testes and the left 2 streak ovaries. In the patients negative for SRY, only one case presented testes. while 2 ovaries. Direct sequencing demonstrated that all SRY genes were normal in the patients positive for SRY gene. FISR technique demonstrated that SRY genes translocated from Ypter to Xpter in 246 XX phenotypic males positive for SRY genes. It was concluded that SRY gene is strongly involved in male sex determination, while a sequence of other genes may be taken into account in sexual development.

Keywords

sex determination / sex-determination region gene / fluorescencein situ hybridization

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