| 3例嵌合型Turner综合征的分子遗传学分析 |
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| 引用本文： | 蒋三亮,邱曙东,常姣娥.3例嵌合型Turner综合征的分子遗传学分析[J].西安交通大学学报(医学版),1995(3). |
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| 作者姓名： | 蒋三亮 邱曙东 常姣娥 |
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| 作者单位： | 西安医科大学组织胚胎学教研室，西安医科大学组织胚胎学教研室，西安医科大学第一附属医院妇产科 西安710061，西安710061 |
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| 摘 要： | 3例嵌合型Turner综合征,除45,X细胞系外,还含有第二个细胞群46,X+mar。PCR分析证实,标记染色体为异常Y染色体,对此异常Y染色体进一步研究表明,存在睾丸决定因子(TDF)基因SRY,而Y长臂末端高度串联重复序列DYZ1发生了缺失。本文还讨论了该病的分子病因和人类性别决定机制。
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| 关 键 词： | 嵌合型Turner综合征 标记染色体 SRY基因 性别决定 |
ANALYSIS OF THREE CASES OF TURNER'S SYNDROME MOSAICISM WITH MOLECULAR GENETICS |
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| Jiang Sanliang,Qiu Shudong,Chang Jiaoe.ANALYSIS OF THREE CASES OF TURNER'S SYNDROME MOSAICISM WITH MOLECULAR GENETICS[J].Journal of Xi‘an Jiaotong University:Medical Sciences,1995(3). |
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| Authors: | Jiang Sanliang Qiu Shudong Chang Jiaoe |
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| Institution: | Department of Histology and Embryology |
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| Abstract: | Three turner-syndrome mosaicism patients with 45. X/46. X mar were studied by polymorase chain reaction. The results showed that the small marker chromosome in each patient was an aberrant Y chromosome, and these aberrant Y chro-mosomes contained testis-determining factor gene, SRY, lost repeated sequence DYZ1 of Y long arm terminal. According to the results, the molecular pathology of three patients and mechanism of human sex-determining were analyzed. |
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| Keywords: | turner-syndrome mosaicism marker chromosome SR Y gene sex-determining |
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