8例性发育异常患者SRY基因分析  

Analysis of SRY gene in 8 cases of sex abnormality patients

作　　者：唐艳平[1] 王慧[1] 滕云[1] 杨真荣[1] 陈艳[1] 刘学飞[1] 周波[1] 张进祥[1] 

机构地区：[1]华中科技大学同济医学院医学遗传研究室,武汉430030

出　　处：《中国优生与遗传杂志》2005年第1期36-38,41,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的　对 8例性发育异常患者进行细胞遗传学及分子遗传学检查以探讨性别发育异常与SRY基因关系。方法　用PY3.4 ,X着丝粒 ,SRY特异探针进行荧光原位杂交 ,用于分析性发育异常病人Y染色体及SRY基因异位情况。聚合酶链反应 (PCR)扩增SRY基因 ,直接测序检测SRY基因突变。结果　 2例 4 6 ,XX男性 ,1例 4 6 ,XY女性 ,1例 4 5 ,X/ 4 6 ,XY嵌合体及 1例 4 6 ,X ,t(Y ;Y) (p11;q11)男性患者SRY基因均为阳性 ,直接测序未发现SRY基因阳性患者该基因突变。剩余 1例 4 6 ,XX男性 ,1例 4 6 ,XY男性及 1例 4 6 ,XY女性患者SRY基因为阴性。FISH技术证实 2例 4 6 ,XX且SRY基因阳性的男性患者SRY基因易位至X染色体短臂末端。结论　SRY基因是人类性别决定的主导基因 ,但尚有其他基因参与性别分化。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.

关 键 词：性发育异常 SRY 荧光原位杂交 

分 类 号：R711.1[医药卫生—妇产科学]