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一个肌萎缩侧索硬化家系D21S223微卫星位点遗传连锁分析 被引量：2

Genetic linkage analysis of microsatellite marker D21S223 of an amyotrophic lateral sclerosis family
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摘要 目的对重庆地区1例肌萎缩侧索硬化家系进行遗传连锁分析。方法采用位于21号染色体上的D21S223微卫星位点,经PCR扩增后进行基因型分析,应用GENEHUNTER软件包进行连锁分析。结果最大LOD值为3.06(Θ=0.10),说明该家系致病基因与21号染色体上的D21S223位点连锁。结论SOD1基因突变可能是引起该家系发病的原因。 Objective To determine whether the gene related to an amyotrophic lateral sclerosis family in Chongqing is linked to chromosome 21q microsatellite marker D21S223 by genetic linkage analysis. Methods D21S223 polymorphims were analyzed by polymerase chain reaction amplification and denaturing polyacrylamide gel electrophoresis. Linkage analysis was performed by GeneHunter soft package （ version 2.0）. Results A peak 2-point Lod score of 3.06 （ 0 = 3.06） was obtained, suggesting that this familial amyotrophic lateral sclerosis （FALS） was linked to chromosome 21q. Conclusion The mutation of SOD1 gene may be responsible for the disease of this family.
作者 史树贵 李露斯 刘昕 倪兵 陈康宁
机构地区 第三军医大学西南医院神经内科 第三军医大学基础医学部分子遗传学教研室 第三军医大学基础医学部全军免疫学研究所
出处 《第三军医大学学报》 CAS CSCD 北大核心 2006年第4期363-365,共3页 Journal of Third Military Medical University
关键词 家族性肌萎缩侧索硬化 连锁分析 微卫星 familial amyotrophic lateral sclerosis genetic linkage analysis microsatellite
分类号 R394-33 [医药卫生—医学遗传学] R394.3 [医药卫生—医学遗传学]
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参考文献9

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共引文献10

同被引文献13

  • 1史树贵,李露斯,陈康宁,刘昕.一个肌萎缩侧索硬化家系的SOD1基因突变[J].中华医学遗传学杂志,2004,21(2):149-152. 被引量：19
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第三军医大学学报
2006年 第4期

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