一项关于一种新的X连锁肌病的连锁研究，提示排除杜氏肌营养不良症（DMD）基因座，并初步定位于Xq远端。
Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq.
作者信息
Saviranta P, Lindlöf M, Lehesjoki A E, Kalimo H, Lang H, Sonninen V, Savontaus M L, de la Chapelle A
机构信息
Department of Biology, University of Turku, Finland.
出版信息
Am J Hum Genet. 1988 Jan;42(1):84-8.
We here report linkage studies in a family suffering from a recently described hereditary muscle disease named X-linked myopathy with excessive autophagy (XMEA). Significant lod scores excluding linkage to the Duchenne-Becker muscular dystrophy locus were found. Several other loci on the short and long arms of the X chromosome produced negative lod scores, whereas probe DX13-7 defining locus DXS15 showed no recombinants and a lod score of z = 0.903 at theta = .0. Further studies should be done to determine whether the gene for XMEA is (1) located at Xq and (2) caused by a mutation of the Emery-Dreifuss muscular dystrophy gene, which has been assigned to the same region.
我们在此报告对一个患有最近描述的遗传性肌肉疾病——X连锁性肌病伴自噬亢进（XMEA）的家族进行的连锁研究。发现显著的对数优势分数，排除了与杜兴 - 贝克肌营养不良基因座的连锁关系。X染色体短臂和长臂上的其他几个基因座产生了负对数优势分数，而定义基因座DXS15的探针DX13 - 7未出现重组体，在θ = 0时对数优势分数z = 0.903。应进行进一步研究以确定XMEA基因是否（1）位于Xq，以及（2）是否由已定位到同一区域的埃默里 - 德赖富斯肌营养不良基因的突变引起。
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