X连锁型夏科-马里-图思病（CMTX1）：对15个家族及12个高信息量多态性的研究
X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.
作者信息
Cochrane S, Bergoffen J, Fairweather N D, Müller E, Mostacciuolo M L, Monaco A P, Fischbeck K H, Haites N E
机构信息
Department of Molecular and Cell Biology, University of Aberdeen Medical School, Foresterhill, UK.
出版信息
J Med Genet. 1994 Mar;31(3):193-6. doi: 10.1136/jmg.31.3.193.
X linked dominant Charcot-Marie-Tooth disease (CMTX1) has previously been localised to Xq13-21. Fifteen families were studied using 12 highly informative polymorphisms in the pericentric region of the X chromosome. Phase known recombinations in these families localise the X linked dominant CMT gene to the region distal to DXS106 (Xq11.2-12) and proximal to DXS559 (Xq13.1). These markers flank approximately 2 to 3 Mb of DNA to which GJB1 and CCG1 have already been mapped. A recent report of mutations in the GJB1 gene in subjects with CMTX1 makes this a strong candidate gene.
X连锁显性遗传性腓骨肌萎缩症（CMTX1）先前已定位到Xq13 - 21。使用X染色体着丝粒周围区域的12个高信息量多态性对15个家系进行了研究。这些家系中已知的相位重组将X连锁显性CMT基因定位到DXS106（Xq11.2 - 12）远端和DXS559（Xq13.1）近端的区域。这些标记位于大约2至3 Mb的DNA两侧，GJB1和CCG1已定位到该区域。最近一份关于CMTX1患者GJB1基因突变的报告使其成为一个强有力的候选基因。
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