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学科主题: 基础医学
题名:
Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients
作者: 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
发表日期: 2006-08-01
DOI: 10.1097/01.gim.0000232481.9628Z89
卷: 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
Citation statistics:
内容类型: 期刊论文
版本: 出版稿
URI标识: http://ir.bjmu.edu.cn/handle/400002259/60166
Appears in Collections:基础医学院_北京大学医学遗传中心_期刊论文

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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

Recommended Citation:
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.
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