Feit H, Silbergleit A, Schneider L B, Gutierrez J A, Fitoussi R P, Réyès C, Rouleau G A, Brais B, Jackson C E, Beckmann J S, Seboun E
Department of Neurology, Henry Ford Hospital, Detroit, Michigan, USA.
Am J Hum Genet. 1998 Dec;63(6):1732-42. doi: 10.1086/302166.
Distal myopathy refers to a heterogeneous group of disorders in which the initial manifestations are weakness and atrophy of the hands and feet. We report a family segregating an autosomal dominant distal myopathy, with multiple affected individuals in whom vocal cord and pharyngeal weakness may accompany the distal myopathy, without involvement of the ocular muscles. To our knowledge, this pedigree displays a distinct distal myopathy with the added features of pharyngeal and vocal cord dysfunction (VCPDM) that has not been previously reported. We mapped the MPD2 gene for VCPDM to chromosome 5q within a 12-cM linkage interval between markers D5S458 and D5S1972 in a large pedigree (a maximum LOD score of 12.94 at a recombination fraction of 0 for D5S393) and combined genome screening and DNA pooling successfully adapted to fluorescent markers. This technique provides for the possibility of fully automated genome scans.
远端肌病是指一组异质性疾病，其最初表现为手足无力和萎缩。我们报告了一个常染色体显性遗传的远端肌病家系，多个受累个体除了远端肌病外，还伴有声带和咽部无力，不累及眼肌。据我们所知，这个家系表现出一种独特的远端肌病，并伴有咽部和声带功能障碍（VCPDM）这一此前未报道过的特征。我们在一个大家系中，将VCPDM的MPD2基因定位到5号染色体q臂上，位于标记D5S458和D5S1972之间12厘摩的连锁区间内（在D5S393重组率为0时，最大对数优势分数为12.94），并成功地将基因组筛选和DNA池化技术应用于荧光标记。这项技术为全自动基因组扫描提供了可能性。
