Timmerman V, De Jonghe P, Spoelders P, Simokovic S, Löfgren A, Nelis E, Vance J, Martin J J, Van Broeckhoven C
Flemish Institute for Biotechnology, Born Bunge Foundation, Department of Biochemistry, Antwerpen, Belgium.
Neurology. 1996 May;46(5):1311-8. doi: 10.1212/wnl.46.5.1311.
A locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2A) was assigned by linkage analysis to chromosome 1p35-p36. We examined 11 unrelated CMT2 families for linkage to CMT2A using short tandem repeat (STR) polymorphisms. Only one family showed suggestive evidence for linkage to 1p35-p36. Further, because of an overlap in electrophysiologic data between CMT2 and CMTX female patients, we screened 6 of 11 CMT2 families compatible with dominant X-linkage for mutations in the connexin 32 (Cx32) gene at Xq13. There was a Cx32 mutation in one family, whereas another family showed suggestive evidence for Xq13 linkage upon analysis with STR polymorphisms. Our results suggest that the CMT2A locus is a minor locus for CMT2, additional linkage studies are needed to localize other CMT2 loci, and Cx32 mutations may be the underlying genetic defect in some CMT2 families.
通过连锁分析将常染色体显性遗传性2型夏科-马里-图斯病（CMT2A）的一个基因座定位于1号染色体的1p35 - p36区域。我们利用短串联重复序列（STR）多态性对11个无关的CMT2家系进行连锁分析，以确定是否与CMT2A相关。只有一个家系显示出与1p35 - p36存在可能的连锁证据。此外，由于CMT2女性患者与CMTX女性患者的电生理数据存在重叠，我们对11个符合显性X连锁的CMT2家系中的6个进行了筛查，以检测位于Xq13的连接蛋白32（Cx32）基因是否存在突变。其中一个家系存在Cx32突变，而另一个家系在用STR多态性分析时显示出与Xq13存在可能的连锁证据。我们的结果表明，CMT2A基因座是CMT2的一个次要基因座，需要进行更多的连锁研究来定位其他CMT2基因座，并且Cx32突变可能是一些CMT2家系潜在的遗传缺陷。
