性发育异常的细胞和分子遗传学分析

ANALYSIS OF CYTOGENETICS AND MOLECULAR GENETICS IN SEXUAL AGENESIS

目的 :探讨染色体核型分析及SRY基因检测在性发育异常中的意义。方法 :通过染色体G显带及聚合酶链式反应 (PCR)对 13例性发育异常患者进行染色体核型及睾丸决定基因 (SRY)分析。结果 :3例 4 6 ,XX男性 ,SRY基因阳性 :3例 4 6 ,XY女性 ,SRY基因阳性 ;2例 4 6 ,XX男性 ,SRY阴性 :1例 4 6 ,XY女性 ,SRY阴性1例 4 5 ,X/46 ,XX/46 ,X ,-X ,+mar男性 ,SRY阴性 ;1例 4 7,XXY男性 ,SRY阳性 1例 4 6 ,X ,-X ,+mar女性 ,SRY阳性 ;1例 4 5 ,X/46 ,XY女性 ,SRY阳性。结论 :性染色体异常和SRY基因异常均能导致性分化及发育异常。

Objective:To investigate the role of the karyotypes and the SRY gene in sexual agenesis. Methods:Karyotypes and sex-determining region of the Y (SRY) gene of 13 patients were analyzed by the technique of chromosal G band and using polymerase chain reaction(PCR). Results:In these patients ,there were three 46,XX males with SRY(+),three 46,XY females with SRY(+),two 46,XX males with SRY(-),one 46,XY female with SRY(-),one 45,XO/46,XX/46,X,-X,+mar male with SRY(-),one 47,XXY male with SRY(+) and one 45,XO/46,XY female with SRY(+).Conclusions:These data indicates that the mutation of sexchromosome and SRY gene relate to sexual agenesis.