Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2

被引：31

作者：

Kennerson, ML ^{[1
]}

Zhu, D

Gardner, RJM

Storey, E

Merory, J

Robertson, SP

Nicholson, GA

机构：

[1] Univ Sydney, Neurobiol Lab, ANZAC Res Inst, Concord Hosp, Sydney, NSW 2139, Australia

[2] Concord Hosp, Mol Med Lab, Concord, NSW, Australia

[3] Monash Univ, Genet Hlth Serv Victoria, Royal Childrens Hosp, Melbourne, Vic, Australia

[4] Monash Univ, Dept Neurosci, Melbourne, Vic, Australia

[5] Austin & Repatriat Hosp, Melbourne, Vic, Australia

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2001年 / 69卷 / 04期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1086/323743

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The hereditary disorders of peripheral nerve form one of the most common groups of human genetic diseases, collectively called Charcot-Marie-Tooth (CMT) neuropathy. Using linkage analysis we have identified a new locus for a form of CMT that we have called "(d) under bar ominant intermediate CMT" (DI-CMT). A genomewide screen using 383 microsatellite markers showed strong linkage to the short arm of chromosome 19 (maximum LOD score 4.3, with a recombination fraction (theta) of 0, at D19S221 and maximum LOD score 5.28, theta =0, at D19S226). Haplotype analysis performed with 14 additional markers placed the D1-CMT locus within a 16.8-cM region flanked by the markers D19S586 and D19S546. Multipoint linkage analysis suggested the most likely location at D19S226 (maximum multipoint LOD score 6.77), within a 10-cM confidence interval. This study establishes the presence of a locus for DI-CMT on chromosome 19p12-p13.2.

引用

页码：883 / 888

页数：6

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