摘要 为探讨SRY基因在睾丸决定和分化中的作用，对2例46，XX真两性畸形、1例46，XY女性、1例46，XY女性伴男女难分患者系统地进行了临床、内分泌学、剖腹探查及病理组织学研究，并应用PCR和Southern blot技术对4例个体基因组DNA(gDNA)中SRY基因作分子生物学分析。结果发现4例性分化异常患者gDNA中SRY基因缺失突变。认为SRY基因是参与睾丸决定和分化的关键调控基因。

    Sex differentiation abnormality Liu Aibing, Zhu Junzhen, Li Hongyun, et al. 466th Hospital ofPLA,Beijng 100081

    Abstract 2 cases of 46, XX true hermophrodity, 1 case each of 46, XY femaleand 46, XY female with ambiguities were thoroughly studied both clinically andhormonologically with exploratory laparotomy and histological studies. SRY gene in thegenomic DNA (gDNA) was analyzed using PCR and Southern blot techniques showing a lack ofSRY gene in gDNA in all the 4 cases. The study demonstrated that SRY is the key gene ofregulation and control in testis determining and differentiation.

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