Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a)
| Autor: | B.W. Ongerboer de Visser, E. M. G. Joosten, Emiel A. M. Janssen, Linda J. Valentijn, Frank Baas, M. de Visser, A.A.W.M. Gabreëls-Festen, G. W. Hensels, F. J. M. Gabreëls, Pieter A. Bolhuis, Jessica E. Hoogendijk, I. Zorn |
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| Přispěvatelé: | Other departments |
| Jazyk: | angličtina |
| Rok vydání: | 1993 |
| Předmět: |
Adult
Genetic Markers Male Restriction Mapping Locus (genetics) Biology Genetic linkage Charcot-Marie-Tooth Disease Gene duplication medicine Humans Allele Alleles Genetics Chromosome Chromosome Mapping DNA Charcot-Marie-Tooth Disease Type 1A medicine.disease Pedigree Blotting Southern Multigene Family Mutation Allelic heterogeneity Female Neurology (clinical) Hereditary motor and sensory neuropathy Chromosomes Human Pair 17 |
| Zdroj: | Neurology, 43(5), 1010-1015. Lippincott Williams and Wilkins |
| ISSN: | 0028-3878 |
| DOI: | 10.1212/wnl.43.5.1010 |
| Popis: | The most frequently found mutation in autosomal dominant hereditary motor and sensory neuropathy type I (HMSN I) is a large duplication on chromosome 17p11.2 containing probes VAW409R3, VAW412R3, and EW401. We investigated a family with severe features of HMSN I, and demonstrated the absence of this duplication by a quantitative analysis of the hybridization signals of VAW409R3 and VAW412R3. Linkage analysis, however, revealed linkage with probe VAW409R3a (lod score, 3.22), which demonstrates the existence of allelic heterogeneity within the HMSN Ia locus. These findings have implications for clinical practice and for investigating the identity of the HMSN Ia gene. |
| Databáze: | OpenAIRE |
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