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学科主题: 临床医学
题名:
Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia
作者: Yang, Y; Wang, Y; Li, S; Xu, Z; Li, H; Ma, L; Fan, J; Bu, D; Liu, B; Fan, Z; Wu, G; Jin, J; Ding, B; Zhu, X; Shen, Y
刊名: JOURNAL OF MEDICAL GENETICS
发表日期: 2004-03-01
DOI: 10.1136/jmg.2003.012153
卷: 41, 期:3, 页:171-174
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]: HYPERKALEMIC PERIODIC PARALYSIS ; ERYTHROMELALGIA ; GENE ; IDENTIFICATION
英文摘要:

Primary erythermalgia is a rare autosomal dominant disease characterised by intermittent burning pain with redness and heat in the extremities. A previous study established the linkage of primary erythermalgia to a 7.94 cM interval on chromosome 2q, but the causative gene was not identified. We performed linkage analysis in a Chinese family with primary erythermalgia, and screened the mutations in the two candidate genes, SCN9A and GCA, in the family and a sporadic patient. Linkage analysis yielded a maximum lod score of 2.11 for both markers D2S2370 and D2S2330. Based on critical recombination events in two patients in the family, we further limited the genetic region to 5.98 cM between D2S2370 and D2S2345. We then identified two missense mutations in SCN9A in the family (T2573A) and the sporadic patient (T2543C). Our data suggest that mutations in SCN9A cause primary erythermalgia. SCN9A, encoding a voltage-gated sodium channel alpha subunit predominantly expressed in sensory and sympathetic neurones, may play an important role in nociception and vasomotor regulation.

语种: 英语
WOS记录号: WOS:000189344300006
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/65834
Appears in Collections:北京大学第一临床医学院_皮肤性病科_期刊论文

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作者单位: 1.Chinese Natl Human Genome Ctr, Beijing 100176, Peoples R China
2.Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R China
3.Capital Univ Med Sci, Beijing Childrens Hosp, Dept Dermatol, Beijing, Peoples R China
4.Gen Hosp PLA, Dept Dermatol, Beijing, Peoples R China

Recommended Citation:
Yang, Y,Wang, Y,Li, S,et al. Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia[J]. JOURNAL OF MEDICAL GENETICS,2004,41(3):171-174.
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