Dyck P J, Ott J, Moore S B, Swanson C J, Lambert E H
Mayo Clin Proc. 1983 Jul;58(7):430-5.
Previous reports have shown linkage of hereditary motor and sensory neuropathy, type I (HMSN I), a dominantly inherited hypertrophic neuropathy, to the locus for the Duffy blood group on the long arm of chromosome 1. Two kinships that were extensively studied and reported almost 20 years ago and used to show heterogeneity among kinships with peroneal muscular atrophy and to characterize HMSN I were investigated for linkage to various blood erythrocyte and lymphocyte (HLA) antigens. Strong evidence against linkage to the Duffy blood group locus was found for one kinship, whereas suggestive evidence for linkage was found for the other. These data imply that HMSN I is heterogeneous--that is, caused by different genetic mechanisms. The HMSN I that is not linked to the Duffy locus might be identified as HMSN IA, and the HMSN I that is linked to the Duffy locus might be designated as HMSN IB. HMSN IA was not linked to other blood types or HLA antigens. In addition, no evidence for linkage to blood types and HLA was found for spastic paraplegia with peroneal muscular atrophy and sensory loss (HMSN V).
先前的报告显示，遗传性运动和感觉神经病I型（HMSN I），一种显性遗传的肥大性神经病，与1号染色体长臂上达菲血型的基因座存在连锁关系。对大约20年前进行过广泛研究并报道过的两个家系进行了调查，这两个家系曾用于显示腓骨肌萎缩症家系间的异质性并对HMSN I进行特征描述，调查其与各种血型红细胞和淋巴细胞（HLA）抗原的连锁关系。在一个家系中发现了反对与达菲血型基因座连锁的有力证据，而在另一个家系中则发现了提示性的连锁证据。这些数据表明HMSN I具有异质性，也就是说，它是由不同的遗传机制引起的。不与达菲基因座连锁的HMSN I可能被鉴定为HMSN IA，而与达菲基因座连锁的HMSN I可能被指定为HMSN IB。HMSN IA与其他血型或HLA抗原没有连锁关系。此外，对于伴有腓骨肌萎缩和感觉丧失的痉挛性截瘫（HMSN V），未发现与血型和HLA连锁的证据。
