多聚酶链反应检测XX男性和真两性畸形中SRY基因  

DETECTION OF SRY GENE IN XX MALES AND TRUE HERMAPHRODITES BY POLYMERASE CHAIN REACTION

作　　者：陈金东[1] 单祥年[1] 蒋清[1] 李明发[1] 黄鹰[1] 邱定红[1] 王世浚[1] 

机构地区：[1]南京铁道医学院生物教研室,210009

出　　处：《中华医学遗传学杂志》1993年第5期257-259,T017,共4页Chinese Journal of Medical Genetics

摘　　要：采用多重聚合酶链反应技术(MPCR)对5例46,XX男性和2例46,XX真两性畸形患者进行SRY基因筛查。结果显示,4例典型的46,XX男性均具有SRY基因,但无Yq重复DNA序列,表明其性别反转与SRY或SRY所在的DNA片段密切相关。此外,在1例伴有尿道下裂的46,XX男性和2例46,XX畸形中,均未发现有可检测的SRY序列存在,说明这些病例具有不同的发病机制,很可能与X或常染色体上的性别决定基因的突变有关。The sex-determining region of Y(SRY) is a recently discovered candidate for the mammalian testis determining factor (TDF). In our study, we investigated the occurrence of SRY sequences in five 46, XX males and two 46, XX true hermaphrodites by using multiplex polymerase chain reaction. The results revealed that SRY sequences were present in four classical 46, XX malees, whereas no SRY gene was detected in another 46, XX male with hypospadia and two XX true hermaphrodites. In addition, Y-repeated sequences were absent in all the cases. We concluded that SRY sequences are reponsible for the sex reversal of the four classical 46, XX males, and probably there are other genetic mechanisms such as gene mutation, to be in charge of the occurrence of 'SRY-negative' XX males and true hermaphrodites.

关 键 词：SRY 基因 聚合酶链反应 两性畸形 

分 类 号：R711.1[医药卫生—妇产科学]