性发育异常患者的分子遗传学研究

The study of molecular genetics in the patient with sexual abnormality.

目的 对 9例性发育异常患者进行分子遗传学检查分析以探讨性别异常的原因。方法 聚合酶链反应法(PCR)检测Y染色体长臂重复序列 (Y3、Y4)和SRY基因。结果 Y染色体长臂重复序列的存在与染色体核型一致 ;而 9例患者中 ,2例 46 ,XX男性患者 ,1例 46 ,XY女性患者 ,2例 46 ,XY男性性征发育不良患者和 1例 45 ,X/ 46 ,XY嵌合体患者SRY基因呈阳性 ,其余 3例SRY基因呈阴性。结论 人类的性别决定是以SRY基因为主导 ,一系列基因参与协调表达的调控串模式 ,SRY基因与性别决定有关 。

Objective: In order to investigate the reasons of sex divergence,9 patients with sexual abnormality were analyzed by molecular genetics way.Methods:Using PCR amplification techniques,we analyzed the repeat sequence(Y3、Y4) in the long arm of Y chromosome and SRY gene.Result: The repeat sequence in the long arm of Y chromosome was corresponding with chromosome karyotype;SRY gene was detected in 9 cases:two 46,XX males,a 46,XY female,two 46,XY males with gonadal dysgenesis and a 45,X/46,XY female were positive;a 46,XX male,a 46,XY female and a 46,X,del Y(q11.21) female were negative. 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,the amplification of repeat sequence in the long arm of Y chromosome is important to the existence of Y chromosome.