Matsunami N, Smith B, Ballard L, Lensch M W, Robertson M, Albertsen H, Hanemann C O, Müller H W, Bird T D, White R
Howard Hughes Medical Institute, University of Utah Medical Center, Salt Lake City 84112.
Nat Genet. 1992 Jun;1(3):176-9. doi: 10.1038/ng0692-176.
Charcot-Marie-Tooth disease 1A (CMT1A) is a hereditary demyelinating peripheral neuropathy, associated with a DNA duplication on chromosome 17p11.2. A related disorder in the mouse, trembler (Tr), maps to mouse chromosome 11 which has syntenic homology to human chromosome 17p. Recently, the peripheral myelin protein-22 (pmp-22) gene was identified as the likely Tr locus. We have constructed a partial yeast artificial chromosome contig spanning the CMT1A gene region and mapped the PMP-22 gene to the duplicated region. These observations further implicate PMP-22 as a candidate gene for CMT1A, and suggest that over-expression of this gene may be one mechanism that produces the CMT1A phenotype.
夏科-马里-图斯病1A型（CMT1A）是一种遗传性脱髓鞘性周围神经病，与17p11.2染色体上的DNA重复有关。小鼠中的一种相关疾病——震颤（Tr），定位于小鼠11号染色体，该染色体与人类17p染色体具有同线性同源性。最近，外周髓磷脂蛋白-22（pmp-22）基因被确定为可能的Tr位点。我们构建了一个跨越CMT1A基因区域的部分酵母人工染色体重叠群，并将PMP-22基因定位到重复区域。这些观察结果进一步表明PMP-22是CMT1A的候选基因，并提示该基因的过度表达可能是产生CMT1A表型的一种机制。
