Griffiths L R, Zwi M B, McLeod J G, Nicholson G A
Department of Medicine, University of Sydney, Australia.
Am J Hum Genet. 1988 May;42(5):756-71.
Charcot-Marie-Tooth neuropathy type 1 (CMT1) is an autosomal dominant disorder of peripheral nerve. The gene for CMT1 was originally localized to chromosome 1 by linkage to the Duffy blood group, but it has since been shown that not all CMT1 pedigrees show this linkage. We report here the results of linkage studies using five chromosome 1 markers--Duffy (Fy), antithrombin III (AT3), renin (REN), beta-nerve growth factor (NGFB), and salivary amylase (AMY1)--in 16 CMT1 pedigrees. The total lod scores exclude close linkage of CMT1 to any of these markers. However, individual families show probable linkage of CMT1 to Duffy, AT3, and/or AMY1. No linkage was indicated with REN or NGFB. These results indicate the possible location of a CMT1 gene between the AMY1 and AT3 loci at p21 and q23, respectively, on chromosome 1 and support the theory that there is at least one other CMT1 gene.
1型遗传性运动感觉神经病(CMT1)是一种常染色体显性外周神经疾病。CMT1基因最初通过与达菲血型的连锁分析定位到1号染色体上,但后来发现并非所有CMT1家系都显示这种连锁关系。我们在此报告了对16个CMT1家系使用5个1号染色体标记物——达菲(Fy)、抗凝血酶III(AT3)、肾素(REN)、β-神经生长因子(NGFB)和唾液淀粉酶(AMY1)进行连锁研究的结果。总的连锁对数排除了CMT1与这些标记物中任何一个的紧密连锁。然而,个别家系显示CMT1与达菲、AT3和/或AMY1可能存在连锁关系。未显示与REN或NGFB有连锁关系。这些结果表明CMT1基因可能分别位于1号染色体上p21的AMY1位点和q23的AT3位点之间,并支持至少存在另一个CMT1基因的理论。