Raeymaekers P, De Jonghe P, Swerts L, Muylle L, Gheuens J, Martin J J, Van Broeckhoven C, Vandenberghe A
Department of Biochemistry, University of Antwerp, Wilrijk, Belgium.
J Neurol Sci. 1988 Dec;88(1-3):145-50. doi: 10.1016/0022-510x(88)90212-2.
We report a large Belgian family with Charcot-Marie-Tooth disease (CMT) or hereditary motor and sensory neuropathy type I (HMSN-I). The pedigree consists of 5 generations with 350 family members comprising 42 patients. The disease is transmitted according to an autosomal dominant inheritance pattern. Several HMSN-I families have been reported to be closely linked to the Duffy blood group marker on chromosome 1. These families were designated HMSN-Ib families, opposed to the HMSN-Ia families which do not show evidence for such a linkage. Therefore we examined our family for the Duffy linkage relationship. We found no evidence for a strong linkage of the disease to the Duffy blood group locus, indicating that this family is of genetic subtype Ia.
我们报告了一个患有夏科-马里-图思病(CMT)或遗传性运动感觉神经病I型(HMSN-I)的比利时大家族。该谱系包含5代人,有350名家庭成员,其中42名患者。该疾病按照常染色体显性遗传模式遗传。据报道,几个HMSN-I家族与1号染色体上的达菲血型标记紧密连锁。这些家族被指定为HMSN-Ib家族,与之相对的是未显示出这种连锁证据的HMSN-Ia家族。因此,我们检测了我们这个家族的达菲连锁关系。我们没有发现该疾病与达菲血型位点存在强连锁的证据,这表明这个家族属于遗传亚型Ia。