学科主题基础医学
Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients
Song, Shujuan; Zhang, Yuanzhi; Chen, Biao; Zhang, Yuanjin; Wang, Manjie; Wang, Yueying; Yan, Ming; Zou, Junhua; Huang, Yu; Zhong, Nanbert
关键词Chinese population Charcot-Marie-Tooth type 1 (CMT1) mutation screening mutation frequency genetic heterogeneity
刊名GENETICS IN MEDICINE
2006-08-01
DOI10.1097/01.gim.0000232481.9628Z89
8期:8页:532-535
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Genetics & Heredity
研究领域[WOS]Genetics & Heredity
关键词[WOS]HEREDITARY NEUROPATHY ; PROTEIN-DEGRADATION ; PRESSURE PALSIES ; IA DUPLICATION ; MYELIN GENES ; PMP22 ; MPZ ; IDENTIFICATION ; LIABILITY
英文摘要

Purpose: To investigate the genetic loci/mutations among the Chinese Charcot-Marie-Tooth disease type 1 (CMT1), which accounts for approximately 70% of Charcot-Marie-Tooth; and to study the genetic heterogeneity and mutation frequency. Methods: CMT1A duplication and mutations at loci of MPZ, Cx32/GJB1, EGR2, and LITAF/SIMPLE were analyzed among 32 clinically diagnosed CMT1 patients of Chinese ancestry. Results: The CMT1A duplication was detected in 62.5% (20/32) CMT1 patients. This duplication accounts for the major mutation for Chinese CMT1. Among 12 cases that have no CMT1A duplication detected, three point mutations including one (3.1%) in MPZ and two (6.3%) in Cx32 were identified. No mutation was detected in genes PMP22, EGR2 and LITAF among the remaining nine (28.1%) CMT1 patients. Conclusion: The mutation frequency for the Chinese CMT1 is similar to that seen in the global ethnic population. Molecular testing of the CMT1A duplication, along with the loci of MPZ and Cx32, may detect the majority of Chinese CMT1 patients.

语种英语
WOS记录号WOS:000239971600008
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被引频次:10[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
版本出版稿
条目标识符http://ir.bjmu.edu.cn/handle/400002259/60166
专题北京大学基础医学院_北京大学医学遗传中心
作者单位1.Xuanwu Hosp, Beijing, Peoples R China
2.Peking Univ, Third Hosp, Beijing 100871, Peoples R China
3.New York State Inst Basic Res, Dept Human Genet, Staten Isl, NY USA
4.Peking Univ, Ctr Med Genet, Beijing 100083, Peoples R China
5.Peking Univ, Hlth Sci Ctr, Dept Med Genet, Beijing 100083, Peoples R China
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GB/T 7714
Song, Shujuan,Zhang, Yuanzhi,Chen, Biao,et al. Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients[J]. GENETICS IN MEDICINE,2006,8(8):532-535.
APA Song, Shujuan.,Zhang, Yuanzhi.,Chen, Biao.,Zhang, Yuanjin.,Wang, Manjie.,...&Zhong, Nanbert.(2006).Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients.GENETICS IN MEDICINE,8(8),532-535.
MLA Song, Shujuan,et al."Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients".GENETICS IN MEDICINE 8.8(2006):532-535.
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