论文部分内容阅读
XX男性最常见的情况是细胞遗传学上检测不到Y染色体而发育睾丸。用分子生物学技术在大多数XX男性中可检测出YpDNA顺序。本文用荧光原位杂交(FISH)技术研究了6例XX男性,其中5例发现SRY易位到一条X染色体末端。这是首次直接显示XX男性所带有的SRY片段易位到X染色体上。使用了11种探针检测SRY、ZFY、ZFX、Yp各位点、X和Y着丝粒等不同DNA顺序。
The most common case of XX males is the development of testis in which the Y chromosome is undetectable cytogenetically. The YpDNA sequence can be detected in most XX males using molecular biology techniques. In this study, 6 cases of XX males were studied by fluorescence in situ hybridization (FISH) technique. Among them, 5 cases found SRY translocation to one X chromosome end. This is the first time that it has been shown directly that the SRY fragment carried by XX males translocates to the X chromosome. Eleven probes were used to detect different DNA sequences of SRY, ZFY, ZFX, Yp, X and Y centromeres.