| 46，XY女性的SRY基因启动子序列的突变研究 |
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| 引用本文： | 刘智,唐迎胜,谢慎思,周钢,曾海涛,朱定尔.46，XY女性的SRY基因启动子序列的突变研究[J].中南大学学报(医学版),1996(6). |
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| 作者姓名： | 刘智 唐迎胜 谢慎思 周钢 曾海涛 朱定尔 |
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| 作者单位： | Research Center of Molecular Bilology，Hunan Medical University |
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| 摘 要： | 采用非同位素ＰＣＲ－ＳＳＣＰ技术对６例４５，ＸＹ女性的ＳＲＹ基因的启动子序列进行突变分析。结果表明，患者ＳＲＹ基因的启动子序列均未发生突变。推测某些４６，ＸＹ女性患者在其ＳＲＹ基因ＨＭＧ盒序列及启动子序列均无突变发生的情况下，可能存在与性分化有关的其它基因的突变，从而导致性反转。
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| 关 键 词： | 性反转，性腺，SRY基因，启动子序列，突变 |
MUTATIONAL ANALYSIS OF THE PROMOTER SEQUENCE OF THE SRY GENE IN XY SEX REVERSALS |
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| Liu Zhi,Tang Yingsheng,Xie Shensi,Zhou Gang,Zeng Haitao,Zhu Ding-er.MUTATIONAL ANALYSIS OF THE PROMOTER SEQUENCE OF THE SRY GENE IN XY SEX REVERSALS[J].Journal of Central South University (Medical Sciences)Journal of Central South University (Medical Sciences),1996(6). |
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| Authors: | Liu Zhi Tang Yingsheng Xie Shensi Zhou Gang Zeng Haitao Zhu Ding-er |
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| Abstract: | utation in the promoter sequence of gene is one of reasons which makes the gene inactive.In order to study the mechanisms of XY sex reversals,we anaiyzed the promoter sequences of theSRY gene in 6 cases of XY sex reversal using a nonradioisotopic PCR-SSCP technique.The re-sults revealed that no mutation occurred in the promoter sequence of the SRY gene,It is sup-posed that mutation in some sex-differentiation related genes other than SRY gene can also leadto sex reversal. |
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| Keywords: | sex reversal gonadal SRY gene promoter regions mutation |
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