遗传性运动和感觉性神经病I型与17号染色体着丝粒周围区域的连锁关系。
Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17.
作者信息
Middleton-Price H R, Harding A E, Monteiro C, Berciano J, Malcolm S
机构信息
Mothercare Department of Paediatric Genetics, Institute of Child Health, London, England.
出版信息
Am J Hum Genet. 1990 Jan;46(1):92-4.
Vance et al. have reported linkage of hereditary motor and sensory neuropathy type I (HMSN I) to the pericentromeric region of chromosome 17. We have studied eight families with HMSN I (also called the hypertrophic form of Charcot-Marie-Tooth disease) for linkage of the disease locus to polymorphic loci in the centromeric region of chromosome 17. Linkage has been confirmed for D17S58 (EW301) with a maximum lod score of 5.89 at theta = 0.08 and for D17S71 (pA10-41) with a maximum lod score of 3.22 at theta = 0.08. EW301 is on 17p, 5.5 centimorgans from the centromere. Two families, previously reported as being linked to the Duffy blood group locus on chromosome 1, were included in this study, and one now provides positive lod scores for chromosome 17 markers. There was no evidence of heterogeneity.
万斯等人报告了遗传性运动和感觉性神经病I型（HMSN I）与17号染色体着丝粒周围区域的连锁关系。我们研究了8个患有HMSN I（也称为肥大性夏科-马里-图思病）的家系，以确定疾病基因座与17号染色体着丝粒区域多态性位点的连锁关系。已证实D17S58（EW301）存在连锁，在θ=0.08时最大对数优势得分为5.89；D17S71（pA10-41）也存在连锁，在θ=0.08时最大对数优势得分为3.22。EW301位于17p，距着丝粒5.5厘摩。本研究纳入了两个先前报告与1号染色体上达菲血型位点连锁的家系，其中一个家系现在为17号染色体标记提供了阳性对数优势得分。没有异质性的证据。
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