EVIDENCE FOR GENETIC HOMOGENEITY IN AUTOSOMAL RECESSIVE GENERALIZED MYOTONIA (BECKER)
EVIDENCE FOR GENETIC HOMOGENEITY IN AUTOSOMAL RECESSIVE GENERALIZED MYOTONIA (BECKER)
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DOI：
10.1136/jmg.30.11.914
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发表时间：
1993-11-01
影响因子：
4
通讯作者：
JENTSCH, TJ
中科院分区：
文献类型：
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作者：
KOCH, MC;RICKER, K;JENTSCH, TJ
广泛性肌强直Becker（GM）是一种常染色体隐性遗传性肌肉疾病。受影响的受试者在所有骨骼肌中表现出肌强直性肌肉僵硬，腿部明显肥大。短暂的肌肉无力在手臂和手部特别明显，是这种疾病的典型症状。最近，我们发现，在德国家庭中，GM疾病与编码骨骼肌氯离子通道CLC-1的基因（CLCN 1）和7号染色体上的TCRB基因完全连锁。在本研究中，我们对14个新的转基因家族进行了连锁分析。GM基因座在所有家族中再次与CLCN 1和TCRB基因完全连锁，在重组分数θ =0.00时，组合lod得分Z = 9.26。这证实了我们以前的数据，并支持GM是一种遗传同质性疾病的假设。先前检测到的T到G错义突变在迄今为止计数的66条GM染色体中的15%上被发现。
Generalised myotonia Becker (GM) is an autosomal recessively inherited muscle disorder. Affected subjects exhibit myotonic muscle stiffness in all skeletal muscles with marked hypertrophy in the legs. A transient muscle weakness is particularly pronounced in the arms and hands and is a typical symptom of the disorder. Recently, we showed complete linkage of the disorder GM to the gene (CLCN1) coding for the skeletal muscle chloride channel CLC-1 and the TCRB gene on chromosome 7 in German families. In the study presented here we performed linkage analysis on 14 new GM families. The GM locus was again completely linked to both the CLCN1 and the TCRB gene in all families with a combined lod score of Z = 9.26 at a recombination fraction of theta=0.00. This confirms our previous data and supports the hypothesis that GM is a genetically homogeneous disorder. The previously detected T to G missense mutation is found on 15% of the 66 GM chromosomes counted so far.