Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.
Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.
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DOI：
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发表时间：
1982-05
影响因子：
9.8
通讯作者：
T. Bird;J. Ott;E. Giblett
中科院分区：
文献类型：
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作者：
T. Bird;J. Ott;E. Giblett
对3个具有典型Charcot-Marie-Tooth（CMT）遗传性神经病的家族进行了连锁研究，这些遗传性神经病的临床表现为常染色体显性遗传、远端肌无力和萎缩、反射减退和运动神经传导速度减慢。两个家庭，包括3和4代，共23个受影响的人是信息的达菲位点已知的长臂上的1号染色体。在重组分数θ = 0.1时，最大总lod得分为2.297。第三个家庭是信息的PGM 1（1号染色体的短臂上）。在第三个家族中，没有证据表明CMT与PGM 1存在连锁关系，但只有θ小于0.03的值可以排除。在这些家庭中，没有证据表明CMT与其他7个信息标记连锁。我们的结论是，控制显性CMT发生的基因可能是大约10厘摩的染色体1长臂上的达菲位点。需要进一步的研究来证实这些发现。
A linkage study was performed on three families with classic Charcot-Marie-Tooth (CMT) hereditary neuropathy with clinical manifestations of autosomal dominant inheritance, distal muscle weakness and atrophy, hyporeflexia, and slow motor nerve conduction velocities. Two families comprising 3 and 4 generations and a total of 23 affected persons were informative for the Duffy locus known to be on the long arm of chromosome 1. The maximum total lod score was 2.297 at recombination fraction theta = .1. The third family was informative for PGM1 (on the short arm of chromosome 1). There was no evidence for linkage of CMT to PGM1 in this third family, but only values of theta less than .03 could be excluded. There was no evidence for linkage of CMT to seven other informative markers in these families. We conclude that the gene controlling the occurrence of dominant CMT may be approximately 10 centimorgans from the Duffy locus on the long arm of chromosome 1. Additional studies are required to confirm these findings.