NDLI: A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24

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A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24

Content Provider	Springer Nature Link
Author	Tang, Bei sha Luo, Wei Xia, Kun Xiao, Jian feng Jiang, Hong Shen, Lu Tang, Jian guang Zhao, Guo hua Cai, Fang Pan, Qian Dai, He ping Yang, Qi dong Xia, Jia hui Evgrafov, Oleg V.
Copyright Year	2004
Abstract	Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders with a prevalence estimated at 1/2500. The axonal form of this disorder is referred to as Charcot-Marie-Tooth type 2 disease (CMT2). Recently, a large Chinese family with CMT2 was found in the Hunan and Hubei provinces of China. The known loci for CMT1A, CMT2D, CMT1B (the same locus is also responsible for CMT2I and CMT2J), CMT2A, CMT2E, and CMT2F were excluded in this family by linkage analysis. A genome-wide screening was then carried out, and the results revealed linkage of CMT2 to a locus at chromosome 12q24. Haplotype construction and analyses localized this novel locus to a 6.8-cM interval between microsatellite markers D12S366 and D12S1611. The maximal two-point LOD score of 6.35 and multipoint LOD score of 8.08 for marker D12S76 at a recombination fraction (θ) of 0 strongly supported linkage to this locus. Thus, CMT2 neuropathy in this family represents a novel genetic entity that we have designated as CMT2L.
Starting Page	527
Ending Page	533
Page Count	7
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	114
Issue Number	6
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	2004-03-12
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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