| Smith-Fineman-Myers综合征与X连锁核蛋白基因的连锁分析 |
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| 引用本文： | 刘奇迹,龚瑶琴,陈丙玺,郭辰虹,李江夏,郭亦寿. Smith-Fineman-Myers综合征与X连锁核蛋白基因的连锁分析[J]. 中华医学遗传学杂志, 2002, 19(1): 22-25 |
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| 作者姓名： | 刘奇迹 龚瑶琴 陈丙玺 郭辰虹 李江夏 郭亦寿 |
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| 作者单位： | 山东大学医学院医学遗传学教研室济南,250012 |
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| 基金项目： | 国家自然科学基金 (39870 4 0 9)~~ |
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| 摘 要： | 目的 明确Smith-Fineman-Myers综合征（Smith-Fineman-Myers syndrome,SFMS)与X连锁核蛋白(X-linked unclear protein,XNP）基因之间的连锁关系。方法 采用聚合酶链反应结合变性聚丙烯酰胺凝胶电泳方法，分析SFMS家系中各成员XNP基因内多态位点基因型。结果 两个多态位点中，XNPSTR1有多态，家系分析结果表明XNP基因与SFMS致病基因之间存在重组。结论 XNP基因不是导致中国山东SFMS家系的致病基因，SFMS存在位点异质性。
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| 关 键 词： | Smith－Fineman－Myers综合征 X连锁核蛋白基因 连锁分析 |
| 修稿时间： | 2001-02-26 |
Linkage analysis of X-linked nuclear protein gene in Smith-Fineman-Myers syndrome |
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| LIU Qiji,GONG Yaoqin,CHEN Bingxi,GUO Chenhong,LI Jiangxia,GUO Yishou.. Linkage analysis of X-linked nuclear protein gene in Smith-Fineman-Myers syndrome[J]. Chinese journal of medical genetics, 2002, 19(1): 22-25 |
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| Authors: | LIU Qiji GONG Yaoqin CHEN Bingxi GUO Chenhong LI Jiangxia GUO Yishou. |
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| Affiliation: | Department of Medical Genetics, School of Medicine, Shandong University, Jinan, Shandong, 250012 P. R. China. gongyaoqin@yahoo.com |
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| Abstract: | Objective To determine the linkage between Smith-Fineman-Myers syndrome (SFMS) and X-linked nuclear protein (XNP) locus. Methods Polymerase chain reaction and denaturing polyacrylamide gel electrophoresis were used to genotype two polymorphic short tandem repeats within XNP gene. Results One of the two short tandem repeats was informative in SFMS family from Shandong, China. Recombination between SFMS locus and XNP gene was observed in the SFMS family. Conclusion XNP gene is not associated with the disease in the SFMS family from Shandong, China. SFMS exhibits locus heterogeneity at molecular level. |
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| Keywords: | Smith-Fineman-Myers syndrome X-linked nuclear protein gene linkage analysis |
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