用Y特异DNA探针对46,XY女性综合征一例的分析

ANALYSIS OF A CASE OF 46, XY FEMALE SYNDROME WITH Y-SPECIFIC DNA PROBE

1例表型为女性,第二性征发育幼稚的,原发闭经患者,核型检查为46,XY.覆盖几乎整个Y染色体的5个DNA探针同患者DNA Southern杂交表明,未见ZFY基因和其它YDNA的缺失。根据上述结果,对该患者的分子病因以及人类性决定机理进行了讨论。

A patient with a female phenotype, infantile second character and primary menopause was reported. The karyotype is 46, XY and no other cell lines and aberrant chromosomes were found in the count of 100 GTG bandedmetap hases. Five DNA probes which almost covered the Y chromosome were hybridized with the patient's DNA, and no deletion of ZFY gene and other Y DNA fragments were detected. The molecular pathology of 46, XY female syndrome and mechanism of human sex differentiation are discussed.