Linkage Evidence for Genetic Heterogeneity Among Kinships with
Hereditary Motor and Sensory Neuropathy, Type I.
PJ Dyck, J Ott, SB Moore, CJ Swanson, EH Lambert
Mayo Clinic Proceedings , 58(7),430-435 (1983 Jul)
Abstract
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).
