LINKAGE DATA SUGGESTING ALLELIC HETEROGENEITY FOR PARAMYOTONIA-CONGENITA AND HYPERKALEMIC PERIODIC PARALYSIS ON CHROMOSOME-17

被引:68
作者
KOCH, MC
RICKER, K
OTTO, M
GRIMM, T
BENDER, K
ZOLL, B
HARPER, PS
LEHMANNHORN, F
RUDEL, R
HOFFMAN, EP
机构
[1] UNIV WURZBURG, NEUROL KLIN, W-8700 WURZBURG, GERMANY
[2] UNIV WURZBURG, INST HUMAN GENET, W-8700 WURZBURG, GERMANY
[3] UNIV FREIBURG, INST HUMAN GENET, W-7800 FREIBURG, GERMANY
[4] UNIV GOTTINGEN, INST HUMAN GENET, W-3400 GOTTINGEN, GERMANY
[5] UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES
[6] TECH UNIV MUNICH, NEUROL KLIN, W-8000 MUNICH 2, GERMANY
[7] UNIV ULM, ALLGEMEINE PHYSIOL ABT, W-7900 ULM, GERMANY
[8] UNIV PITTSBURGH, SCH MED, DEPT MOLEC GENET & BIOCHEM, PITTSBURGH, PA 15261 USA
关键词
D O I
10.1007/BF00204932
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Paramyotonia congenita (PC), an autosomal dominant non-progressive muscle disorder, is characterised by cold-induced stiffness followed by muscle weakness. The weakness is caused by a dysfunction of the sodium channel in muscle fibre. Parts of the gene coding for the alpha-subunit of the sodium channel of the adult human skeletal muscle (SCN4A) have been localised on chromosome 17. To investigate the role of this gene in the etiology of PC, a linkage analysis in 17 well-defined families was carried out. The results (z = 20.61, THETA = 0.001) show that the mutant gene responsible for the disorder is indeed tightly linked to the SCN4A gene. The mutation causing hyperkalemic periodic paralysis (HyperPP) with myotonia has previously been mapped to this gene locus by the same candidate gene approach. Thus, our data suggest that PC and HyperPP are caused by allelic mutations at a single locus on chromosome 17.
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页码:71 / 74
页数:4
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