常染色体显性I型遗传性运动和感觉神经病与1号染色体上达菲位点的连锁关系。
Linkage of autosomal dominant type I hereditary motor and sensory neuropathy to the Duffy locus on chromosome 1.
作者信息
Guiloff R J, Thomas P K, Contreras M, Armitage S, Schwarz G, Sedgwick E M
出版信息
J Neurol Neurosurg Psychiatry. 1982 Aug;45(8):669-74. doi: 10.1136/jnnp.45.8.669.
Abstract
Data from English families confirms the probable linkage of the loci for autosomal dominant type I hereditary motor and sensory neuropathy (HMSN) and the Duffy blood group. The locus for autosomal dominant type I HMSN is in chromosome 1 near the centromere, about 15 centimorgans from the Duffy locus. The linkage between type I HMSN and the Duffy locus and the two recombinants found between Duffy and type II HMSN support the hypothesis that there are at least two genetic variants of autosomal dominant HMSN.
摘要
来自英国家庭的数据证实了常染色体显性遗传I型遗传性运动感觉神经病（HMSN）的基因座与达菲血型之间可能存在的连锁关系。常染色体显性遗传I型HMSN的基因座位于1号染色体靠近着丝粒的位置，距离达菲基因座约15厘摩。I型HMSN与达菲基因座之间的连锁关系以及在达菲基因座和II型HMSN之间发现的两个重组体支持了这样一种假说，即常染色体显性遗传HMSN至少存在两种遗传变异。
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