| 八例性发育异常患者的SRY基因检测 |
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| 引用本文： | 陈虹 熊健. 八例性发育异常患者的SRY基因检测[J]. 中华医学遗传学杂志, 1995, 12(1): 26-29,T003 |
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| 作者姓名： | 陈虹 熊健 |
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| 作者单位： | 首都儿科研究所生化免疫室，北京医科大学，中国医学科学院基础医学研究所 |
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| 摘 要： | 采用多聚酶链式反应（ＰＣＲ）结合核酸杂交的方法对８例性发育异常患儿进行了ＳＲＹ基因检测，３例，４６，ＸＸ男性患儿有２例显示基因组ＤＮＡ中含有ＳＲＹ基因，证实ＳＲＹ基因易位是导致患儿性发育异常的原因。４例，４６，ＸＹ女性患儿ＳＲＹ基因为阳性。探讨了ＳＲＹ基因检测对临床诊断的意义和应用的可能性。
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| 关 键 词： | SRY基因 性发育异常 核酸杂交 聚合酶链反应 |
A STUDY ON THE DETECTION OF SRY GENE IN 8 CASES OF SEXUAL ABNORMALITY |
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| Chen Hong, Xiong Jian, Du Xiaojuan,et al.. A STUDY ON THE DETECTION OF SRY GENE IN 8 CASES OF SEXUAL ABNORMALITY[J]. Chinese journal of medical genetics, 1995, 12(1): 26-29,T003 |
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| Authors: | Chen Hong Xiong Jian Du Xiaojuan et al. |
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| Affiliation: | Chen Hong, Xiong Jian, Du Xiaojuan, et al. |
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| Abstract: | The SRY gene in 8 cases of children with sexual abnormality was detected using PCR and hybridization.In 2 out of 3 cases of 46, XX males, the SRY gene was detected from genomic DNA,demonstrating that the translocation of the SRY gene was the cause of children with sexual abnormality.In all 4 cases of 46, XY females, the SRY gene was positive. The significance and possibility of using this method to detect the SRY gene in clinical diagnosis were discussed. |
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| Keywords: | SRY gene Sexual abnormality Polymerase chain reaction Hybridization |
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