遗传性运动和感觉性神经病I型（夏科-马里-图思病）与1号和17号染色体标记的基因连锁。
Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17.
作者信息
Defesche J C, Hoogendijk J E, de Visser M, de Visser O, Bolhuis P A
机构信息
Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
出版信息
Neurology. 1990 Sep;40(9):1450-3. doi: 10.1212/wnl.40.9.1450.
Hereditary motor and sensory neuropathy type 1 (HMSN I) is an autosomal dominant disorder genetically localized on chromosome 1 in a few families and on chromosome 17 in other families. We analyzed linkage between 6 markers of chromosome 1, 2 markers of chromosome 17, and the HMSN I locus using restriction fragment length polymorphisms and serotyping for the Duffy blood group in 5 families with HMSN I. Only in 1 of these families is linkage present between the disease locus and the loci for Duffy blood group and glucocerebrosidase (chromosome 1 markers). In the 4 other families the HMSN I locus is linked to the chromosome 17 markers pEW301 and pA10-41.
遗传性运动和感觉神经病1型（HMSN I）是一种常染色体显性疾病，在一些家族中基因定位于1号染色体，在其他家族中定位于17号染色体。我们利用限制性片段长度多态性以及对5个患有HMSN I的家族进行达菲血型血清分型，分析了1号染色体的6个标记、17号染色体的2个标记与HMSN I位点之间的连锁关系。在这些家族中，只有1个家族的疾病位点与达菲血型和葡萄糖脑苷脂酶（1号染色体标记）的位点存在连锁关系。在其他4个家族中，HMSN I位点与17号染色体标记pEW301和pA10 - 41连锁。
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