X连锁型夏科-马里-图斯病的连锁定位
Linkage localization of X-linked Charcot-Marie-Tooth disease.
作者信息
Bergoffen J, Trofatter J, Pericak-Vance M A, Haines J L, Chance P F, Fischbeck K H
机构信息
Department of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, PA.
出版信息
Am J Hum Genet. 1993 Feb;52(2):312-8.
Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathy, is a heterogeneous group of slowly progressive, degenerative disorders of peripheral nerve. X-linked CMT (CMTX) (McKusick 302800), a subdivision of type I, or demyelinating, CMT is an X-linked dominant condition with variable penetrance. Previous linkage analysis using RFLPs demonstrated linkage to markers on the proximal long and short arms of the X chromosome, with the more likely localization on the proximal long arm of the X chromosome. Available variable simple-sequence repeats (VSSRs) broaden the possibilities for linkage analysis. This paper presents new linkage data and recombination analysis derived from work with four VSSR markers--AR, PGKP1, DXS453, and DXYS1X--in addition to analysis using RFLP markers described elsewhere. These studies localize the CMTX gene to the proximal Xq segment between PGKP1 (Xq11.2-12) and DXS72 (Xq21.1), with a combined maximum multipoint lod score of 15.3 at DXS453 (theta = 0).
夏科-马里-图斯病（CMT），也称为遗传性运动和感觉神经病，是一组异质性的、缓慢进展的周围神经退行性疾病。X连锁型CMT（CMTX）（麦库西克编号302800），属于I型或脱髓鞘型CMT的一个亚类，是一种具有可变外显率的X连锁显性疾病。先前使用限制性片段长度多态性（RFLP）进行的连锁分析表明，其与X染色体近端长臂和短臂上的标记连锁，更可能定位于X染色体近端长臂。现有的可变简单序列重复（VSSR）拓宽了连锁分析的可能性。本文除了使用其他地方描述的RFLP标记进行分析外，还展示了使用四个VSSR标记——AR、PGKP1、DXS453和DXYS1X——所获得的新的连锁数据和重组分析结果。这些研究将CMTX基因定位到PGKP1（Xq11.2 - 12）和DXS72（Xq21.1）之间的近端Xq区段，在DXS453处（θ = 0）的最大多点对数优势分数总和为15.3。
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