X连锁型腓骨肌萎缩症（CMTX1）的联合精细定位：进一步支持连接蛋白32是CMTX1的致病缺陷

Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1.

作者信息

Pericak-Vance M A, Barker D F, Bergoffen J A, Chance P, Cochrane S, Dahl N, Exler M C, Fain P R, Fairweather N D, Fischbeck K

机构信息

Department of Medicine, Joseph and Kathleen Bryan Alzheimer's Disease Research Center, Duke University Medical Center, Durham, N.C. 27710, USA.

出版信息

Hum Hered. 1995 May-Jun;45(3):121-8. doi: 10.1159/000154272.

DOI:10.1159/000154272

PMID:7615296

Abstract

Charcot-Marie-Tooth (CMT) disease is the most common form of inherited motor and sensory neuropathy. X-linked CMT (CMTX1) has been localized to the pericentric region of the X chromosome. Recently, mutations have been defined in the connexin32 gene that cosegregate with the CMTX1 phenotype in several families. The present paper presents the results of an international consortium to fine map the gene for CMTX1 to a small segment of Xq12-13. The linkage data, together with the molecular genetic studies, support the hypothesis that connexin32 is the genetic defect in CMTX1.

摘要

夏科-马里-图思（CMT）病是遗传性运动和感觉神经病变最常见的形式。X连锁CMT（CMTX1）已被定位到X染色体的着丝粒周围区域。最近，在几个家族中已确定连接蛋白32基因的突变与CMTX1表型共分离。本文介绍了一个国际联盟的研究结果，该联盟将CMTX1基因精细定位到Xq12 - 13的一小段区域。连锁数据以及分子遗传学研究支持连接蛋白32是CMTX1遗传缺陷的假说。