两例46，XX男性Y染色体特异性基因和DNA的检测

Identfication of Y Chromosome-Specific Gencs in Two XX Males by Polymerase Chain Reaction

应用ＰＣＲ技术检测性反转综合征患者的ＳＲＹ、ＺＦＹ及ＤＹＺ１基因。在两例４６，ＸＸ男性患者中均检出５ＲＹ基因顺序；１例有ＺＦＹ基因，另１例无此基因；而两例都无ＤＹＺ１ＤＮＡ顺序存在。上述结果提示：４６，ＸＸ男性的男性表型和ＳＲＹ基因存在相关，可能由Ｙ染色体短臂易位到其它染色体所致。

enomic DNA from two XX males was examined by polymerase chain reaction(PCR ) to identifythe Y-chromosomal sequences. SRY,a gene that has been recently demonstrated to be the testis deter-mining factor(TDF) existed in both cases. However,ZFY gene,which was orginally isolated as a can-didate for TDF , was detected only in one case. In neither case,the repetitive DYZ1 sequences on theeuchromatic region of Y chromosome could be observed. These results indicated that the male pheno-type of XX males was associated with the presence of the SRY gene and suggested that translocation ofthe short arm of Y-chromosome to other chromosomes was the cause of the abnormal phenotypes.