Middleton-Price H R, Harding A E, Berciano J, Pastor J M, Huson S M, Malcolm S
Mothercare Department of Paediatric Genetics, Institute of Child Health, London, United Kingdom.
Genomics. 1989 Feb;4(2):192-7. doi: 10.1016/0888-7543(89)90299-1.
Although one large family with hereditary motor and sensory neuropathy (HMSN) type I that showed linkage to the Duffy blood group (FY) on chromosome 1 has previously been reported, we have failed to find evidence for such linkage after examining 14 markers from chromosome 1 in 12 pedigrees. We have excluded linkage between HMSN I and FY up to theta = 0.15 (lod = -3.01) and also between HMSN I and markers flanking FY; amylase (AMY), polymorphic urinary mucin (PUM), serum amyloid protein (APCS), and alpha-spectrin (SPTA). We have excluded HMSN I from 70 cM around this linkage group. Other markers examined were MS1, oncogene L-myc (MYCL), beta-subunit of nerve growth factor (NGFB), oncogene N-ras (NRAS), glucocerebrosidase (GBA), apolipoprotein AII (APOA2), antithrombin III (AT3), renin (REN), and MS32. These cover both the long and the short arms of chromosome 1 in addition to the centromeric region and yielded no evidence of linkage to HMSN I. Two-point lod scores between these markers are also presented. It is possible that there are two or more loci for HMSN I and it will be necessary to obtain significant lod scores from individual families to resolve this issue. This is increasingly possible now that hypervariable genetic markers such as PUM are available.
尽管此前曾报道过一个遗传性运动和感觉神经病（HMSN）I型的大家族，其显示与1号染色体上的达菲血型（FY）存在连锁关系，但在对12个家系中1号染色体的14个标记进行检测后，我们未能找到这种连锁关系的证据。我们已经排除了HMSN I与FY之间在θ = 0.15（对数优势比=-3.01）时的连锁关系，以及HMSN I与FY侧翼标记之间的连锁关系；淀粉酶（AMY）、多态性尿粘蛋白（PUM）、血清淀粉样蛋白（APCS）和α-血影蛋白（SPTA）。我们已经将HMSN I从这个连锁群周围70厘摩的范围内排除。检测的其他标记包括MS1、癌基因L- myc（MYCL）、神经生长因子β亚基（NGFB）、癌基因N- ras（NRAS）、葡萄糖脑苷脂酶（GBA）、载脂蛋白AII（APOA2）、抗凝血酶III（AT3）、肾素（REN）和MS32。这些标记除了覆盖1号染色体的着丝粒区域外，还覆盖了其长臂和短臂，未发现与HMSN I存在连锁关系的证据。还列出了这些标记之间的两点对数优势比得分。有可能存在两个或更多个HMSN I的基因座，有必要从各个家系中获得显著的对数优势比得分来解决这个问题。鉴于现在有PUM等高变遗传标记，这种可能性越来越大。
