Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0012872 (DNA marker)
 929 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We identified a large kindred that shows classical myotonic dystrophy (MyD), together with hereditary motor and sensory neuropathy (HMSN) in some individuals, and HMSN alone in others. A previous study of this family has shown cosegregation of the MyD and HMSN phenotypes with the Lutheran and secretor loci in some branches of the family, indicating linkage to chromosome 19. We reanalyzed this family with 2 recombinant DNA marker systems from the ApoC2 locus on chromosome 19. Our results demonstrate that all affected individuals have inherited a unique ApoC2 haplotype that was not found in their clinically and electrophysiologically normal sibs. We also obtained evidence against involvement of the HMSN I locus on chromosome 17. In this family, a moderately severe neuropathy may be the only clinical sign of MyD for many years. Our results are consistent with an unusual neuropathic mutation at the MyD gene. However, involvement of 2 closely linked genes (1 for MyD and the other for HMSN) can also explain our findings.
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PMID:Genetic linkage with chromosome 19 but not chromosome 17 in a family with myotonic dystrophy associated with hereditary motor and sensory neuropathy. 198 99

We report the clinical, pathological, and genetic findings of 23 patients in 8 families with hereditary motor and sensory neuropathy (proximal dominant form) (HMSN-P) in Okinawa, Japan. The clinical features were unique with respect to autosomal dominant inheritance, Kennedy-Alter-Sung syndrome-like proximal dominant neurogenic atrophy, obvious sensory involvement, painful muscle cramp, fasciculations, areflexia, and high incidences of elevated creatine kinase levels, hyperlipidemia, and diabetes mellitus. Electrophysiological and pathological studies revealed typical motor and sensory axonal neuropathy, and decreased numbers of anterior born and dorsal ganglion cells, which suggested the presence of neuronopathy in HMSN-P. Genetic linkage studies showed a lod score of 4.04 (two-point analysis) in DNA marker D3S1284. Haplotype analysis showed that the gene locus of the disease was mapped to 3p14.1-q13 bracketed by D3S1285 and D3S1281. In this region, the patients' chromosomes showed an obvious increase in the allele frequency of five markers. One allele in D3S1591 was identical in all patients but had a low frequency in the control population. This finding suggested the presence of linkage disequilibrium and a common origin of this allele in all patients with HMSN-P. The HMSN-P described here is a new clinical entity characterized by unique clinical manifestations and a new gene locus.
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PMID:A new type of hereditary motor and sensory neuropathy linked to chromosome 3. 918 38

Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) has been reported as a new type of HMSN with the disease gene locus in the 3p14.1-q13 region. To further narrow down the gene locus, we performed fine linkage mapping using the linkage disequilibrium method. Analysis of DNA marker haplotypes and genetic cross-over sites showed the disease gene locus to be in the 3.1 cM interval bracketed by D3S1591 and D3S1281. Linkage disequilibrium analysis with DISMULT using 9 marker loci jointly in this region showed a lod score of 4.93 (P < 0.00000095). Consequently, the HMSN-P gene almost certainly lies on chromosome 3q13.1 and shows evidence of linkage disequilibrium.
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PMID:Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1. 1054 38