Spinocerebellar ataxia type 6: evidence for a strong founder effect among German families
| Autor: | H. Weirich-Schwaiger, Katrin Bürk, Jürgen Herzog, Giovanni Stevanin, Thomas Klockgether, Olaf Riess, T. Gasser, Martin Dichgans, Franco Laccone, Guy A. Rouleau, Christine Zühlke, Ludger Schöls |
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| Rok vydání: | 1999 |
| Předmět: |
Genetics
education.field_of_study Haplotype Population Biology medicine.disease Founder Effect Autosomal dominant cerebellar ataxia Haplotypes Chromosome 19 Germany medicine Spinocerebellar ataxia type 6 Humans Neurology (clinical) Allele education Genotyping Chromosomes Human Pair 19 Alleles Founder effect Spinocerebellar Degenerations |
| Zdroj: | Neurology. 52(4) |
| ISSN: | 0028-3878 |
| Popis: | Article abstract The authors found a strong geographic cluster of spinocerebellar ataxia type 6 (SCA6) families in the Northrhine–Westfalia area, suggesting a founder effect in the German SCA6 population. Genotyping with DNA markers linked to the CACNL1A4 gene on chromosome 19p13 revealed a common haplotype and shared allelic characteristics in the majority of German families. The observed founder effect may be related to the relative meiotic stability of CAG repeats in this type of autosomal dominant cerebellar ataxia. |
| Databáze: | OpenAIRE |
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