Literature DB >> 6865476

Linkage evidence for genetic heterogeneity among kinships with hereditary motor and sensory neuropathy, type I.

P J Dyck, J Ott, S B Moore, C J Swanson, E H Lambert.   

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).

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Year:  1983        PMID: 6865476

Source DB:  PubMed          Journal:  Mayo Clin Proc        ISSN: 0025-6196            Impact factor:   7.616


  19 in total

Review 1.  Linkage analysis in heterogeneous and complex traits.

Authors:  J Ott; A Bhat
Journal:  Eur Child Adolesc Psychiatry       Date:  1999       Impact factor: 4.785

2.  Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).

Authors:  P F Chance; T D Bird; P O'Connell; H Lipe; J M Lalouel; M Leppert
Journal:  Am J Hum Genet       Date:  1990-12       Impact factor: 11.025

3.  Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc gamma receptor gene region.

Authors:  R V Lebo; P F Chance; P J Dyck; M T Redila-Flores; E D Lynch; M S Golbus; T D Bird; M C King; L A Anderson; J Hall
Journal:  Hum Genet       Date:  1991-11       Impact factor: 4.132

Review 4.  Hereditary motor and sensory neuropathies.

Authors:  J M Vance
Journal:  J Med Genet       Date:  1991-01       Impact factor: 6.318

5.  Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type I (CMTIA) gene-region markers.

Authors:  R V Lebo; E D Lynch; T D Bird; M S Golbus; D F Barker; P O'Connell; P F Chance
Journal:  Am J Hum Genet       Date:  1992-01       Impact factor: 11.025

6.  Genetic linkage studies in hereditary motor and sensory neuropathies.

Authors:  F Leblhuber; F Reisecker; W R Mayr
Journal:  J Neurol       Date:  1986-10       Impact factor: 4.849

7.  Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.

Authors:  P I Patel; B Franco; C Garcia; S A Slaugenhaupt; Y Nakamura; D H Ledbetter; A Chakravarti; J R Lupski
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

8.  The Duffy blood group is linked to the alpha-spectrin locus in a large pedigree with autosomal dominant inheritance of Charcot-Marie-Tooth disease type 1.

Authors:  P Raeymaekers; C Van Broeckhoven; H Backhovens; A Wehnert; L Muylle; P De Jonghe; J Gheuens; A Vandenberghe
Journal:  Hum Genet       Date:  1988-01       Impact factor: 4.132

9.  Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17.

Authors:  H R Middleton-Price; A E Harding; C Monteiro; J Berciano; S Malcolm
Journal:  Am J Hum Genet       Date:  1990-01       Impact factor: 11.025

10.  Detection of hereditary motor sensory neuropathy type I in childhood.

Authors:  T E Feasby; A F Hahn; C F Bolton; W F Brown; W J Koopman
Journal:  J Neurol Neurosurg Psychiatry       Date:  1992-10       Impact factor: 10.154

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