伴有夏科-马里-图斯神经病变（遗传性运动感觉神经病I型）的一个大家庭中突变的定位。
Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).
作者信息
Raeymaekers P, Timmerman V, De Jonghe P, Swerts L, Gheuens J, Martin J J, Muylle L, De Winter G, Vandenberghe A, Van Broeckhoven C
机构信息
Department of Biochemistry, University of Antwerp, Belgium.
出版信息
Am J Hum Genet. 1989 Dec;45(6):953-8.
Hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth (CMT) disease is an autosomal dominant peripheral neuropathy. In some CMT families linkage has been reported with either the Duffy blood group or the APOA2 gene, both located on chromosome 1q. More recently, linkage has been found in six CMT families with two chromosome 17p markers. We extensively analyzed a multi-generation Charcot-Marie-Tooth family by using molecular genetic techniques in order to localize the CMT gene defect. First, we constructed a continuous linkage group of 11 chromosome 1 markers and definitely excluded chromosome 1 as the site of mutation. Second, we analyzed the family for linkage with chromosome 17. The two-point lod scores obtained with D17S58 and D17S71 proved that this Charcot-Marie-Tooth family is linked to chromosome 17. Moreover, multipoint linkage results indicated that the mutation is most likely located on the chromosome 17p arm, distal of D17S71.
遗传性运动和感觉性神经病I型（HMSN I）或夏科-马里-图斯（CMT）病是一种常染色体显性周围神经病。在一些CMT家族中，已报道与位于1号染色体q臂上的达菲血型或载脂蛋白A2基因存在连锁关系。最近，在六个CMT家族中发现与两个17号染色体p臂标记存在连锁关系。我们运用分子遗传学技术对一个多代的夏科-马里-图斯家族进行了广泛分析，以定位CMT基因缺陷。首先，我们构建了一个由11个1号染色体标记组成的连续连锁群，并明确排除1号染色体作为突变位点。其次，我们分析该家族与17号染色体的连锁关系。用D17S58和D17S71获得的两点连锁分析优势对数得分证明，这个夏科-马里-图斯家族与17号染色体连锁。此外，多点连锁分析结果表明，突变最可能位于17号染色体p臂上，在D17S71的远端。
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