Brais B, Xie Y G, Sanson M, Morgan K, Weissenbach J, Korczyn A D, Blumen S C, Fardeau M, Tomé F M, Bouchard J P
Centre for Research in Neurosciences, McGill University, Montréal, Québec, Canada.
Hum Mol Genet. 1995 Mar;4(3):429-34. doi: 10.1093/hmg/4.3.429.
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant muscular dystrophy which presents typically after the age of 50 with progressive eyelid drooping and an increasing difficulty in swallowing. Though OPMD has a world-wide incidence, it is more common in the French Canadian population. We have identified a homogeneous group of families and studied 166 polymorphic markers as part of a genome search before establishing linkage to chromosome 14. We determined that the OPMD locus maps to a less than 5 cM region of chromosome 14q11.2-q13. The maximum two-point lod score in three French Canadian families of 14.73 (theta = 0.03) was obtained for an intronic cardiac beta myosin heavy chain gene (MYH7) marker. The regional localization for the OPMD locus raises the intriguing possibility that either the cardiac alpha or beta myosin heavy chain genes may play a role in this disease.
眼咽型肌营养不良症（OPMD）是一种迟发性常染色体显性肌营养不良症，通常在50岁以后发病，表现为进行性眼睑下垂和吞咽困难逐渐加重。虽然OPMD在全球范围内都有发病，但在法裔加拿大人中更为常见。我们已经确定了一组同源家族，并在将其与14号染色体建立连锁关系之前，作为基因组搜索的一部分研究了166个多态性标记。我们确定OPMD基因座定位于14号染色体14q11.2 - q13的一个小于5厘摩的区域。在三个法裔加拿大家庭中，内含子心脏β肌球蛋白重链基因（MYH7）标记获得的最大两点连锁值为14.73（θ = 0.03）。OPMD基因座的区域定位引发了一种有趣的可能性，即心脏α或β肌球蛋白重链基因可能在这种疾病中起作用。
