| 两例46，XX男性Y染色体特异性基因和DNA的检测 |
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| 引用本文： | 姜莉,张学,孙桂凤,孙开来,张文勤.两例46，XX男性Y染色体特异性基因和DNA的检测[J].中国医科大学学报,1995(2). |
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| 作者姓名： | 姜莉 张学 孙桂凤 孙开来 张文勤 |
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| 作者单位： | 基础医学院医学遗传学教研室，沈阳市计划生育科研所 |
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| 摘 要： | 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。
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| 关 键 词： | SRY基因 ZFY基因 DYZ1基因 睾丸决定因子 |
Identfication of Y Chromosome-Specific Gencs in Two XX Males by
Polymerase Chain Reaction |
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| Jiang Li,Zhanig Xue,Sun Guifeng,et al.Identfication of Y Chromosome-Specific Gencs in Two XX Males by
Polymerase Chain Reaction[J].Journal of China Medical University,1995(2). |
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| Authors: | Jiang Li Zhanig Xue Sun Guifeng |
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| Institution: | Jiang Li,Zhanig Xue,Sun Guifeng,et al
Department of Medical Genetics) |
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| Abstract: | 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. |
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| Keywords: | polymerase chain reaction testis determing factor SRY ZFY |
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