Analysis of SRY gene in 8 cases of sex abnormality patients

Objective: In order to investigate the relationship between sex divergence with SRY gene,8 cases of patients with sexual abnormality were analyzed by cytogentic way and molecular genetics way. Methods: Fluorescence in situ hybridization(FISH) using PY3.4,X alpha satellite, and SRY probe labeled with biotin were made in 8 cases of dysgenitalism to analyse the sex chromosome translocation and gene translocation. SRY gene mutation was confirmed by polymerase chain reaction(PCR) and sequencing the products directly.Result: SRY gene was detected in 8 cases:two 46,XX males, one 46,XY female, one 45,XO/46,XY female,one 46,X,t(Y;Y)(p11;q11) male were positive;one 46,XX male, one 46,XY male, one 46,XY female were negative. Direct sequencing demonstrated that all SRY genes were normal in patients whose SRY gene was positive.FISH technique demonstrated that SRY gene translocated from Ypter to Xpter in two 46,XX male whose SRY gene were pisitive.Conclusion: Sex was mainly determined by SRY,but normal sexual development may result from the functional and developmental integration of a number of different genes that play roles in determination,sexual differentiation and sexual behavior.