| X-连锁隐性遗传的腓骨肌萎缩症与Cx32基因突变 |
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| 引用本文： | 罗巍,唐北沙,萧剑锋,江泓,羊毅,李崎,马燕琳. X-连锁隐性遗传的腓骨肌萎缩症与Cx32基因突变[J]. 中华内科杂志, 2001, 40(8): 543-545 |
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| 作者姓名： | 罗巍 唐北沙 萧剑锋 江泓 羊毅 李崎 马燕琳 |
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| 作者单位： | 1. 中南大学湘雅医院神经内科,
2. 中国医学遗传学国家重点实验室 |
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| 基金项目： | 国家自然科学基金资助项目(39900047) |
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| 摘 要： | 目的：探讨X－连锁隐性遗传的腌骨肌萎缩症（CMTXR）与Cx32基因突变的关系。方法：应用聚合酶链反应－单链构象多态性（PCR－SSCP）结合DNA序列方法检测了一个X－连锁隐性遗传的腌骨肌萎缩症家系中4名患者，9名有血缘关系的正常人及家系外50名无血缘关系的正常人。结果：发现该家系中4例患者及3名有血缘关系的正常人均出现异常SSCP条带，经测序证实为Arg15Gln突变。结论：Cx32基因突变可以导致X－连锁隐性遗传的腓骨肌萎缩症。应用PCR－SSCP结合DNA序列分析方法可对由Cx32基因突变所致的X－连锁隐性遗传的腓骨肌萎缩症进行基因诊断。
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| 关 键 词： | 连接蛋白类 遗传性疾病 腓骨肌萎缩症 CMTXR Cx32基因 基因突变 |
| 修稿时间： | 2000-10-17 |
X-linked recessive Charcot-Marie-Tooth disease and Cx32 gene mutation |
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| LUO Wei,TANG Beisha,XIAO Jianfeng,et al.. X-linked recessive Charcot-Marie-Tooth disease and Cx32 gene mutation[J]. Chinese journal of internal medicine, 2001, 40(8): 543-545 |
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| Authors: | LUO Wei TANG Beisha XIAO Jianfeng et al. |
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| Affiliation: | Xiangya Hospital, Central South University, Changsha 410008, China. |
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| Abstract: | Objective To study the Cx32 gene mutation in a X linked recessive Charcot Marie Tooth disease (CMTXR) family.Methods Mutation analysis of Cx32 was screened by polymerase chain reaction single strand conformation polymorphism (PCR SSCP) combined with DNA direct sequencing in 4 patients, 9 unaffected family members and 50 unrelated normal individuals.Results Arg15Gln mutation was found in 4 patients and 3 unaffected family members.Conclusion The mutation of Cx32 can also cause CMTXR. Using PCR SSCP combined with DNA direct sequencing can make gene diagnosis to CMTXR that is caused by Cx32 mutation. |
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| Keywords: | Connexins Hereditary diseases Charcot Marie Tooth disease |
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