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Founder effect and ancestral origin of the spinocerebellar ataxia type 7 (SCA7) mutation in Mexican families
- Source :
- Neurogenetics. 15(1)
- Publication Year :
- 2013
-
Abstract
- Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant disease characterized by progressive cerebellar ataxia and macular degeneration causing progressive blindness. It accounts for 1 to 11.6 % of spinocerebellar ataxias (SCAs) cases worldwide and for 7.4 % of SCA7 cases in Mexico. We identified a cluster of SCA7 families who resided in a circumscribed area of Veracruz and investigated whether the high incidence of the disease in this region was due to a founder effect. A total of 181 individuals from 20 families were studied. Four microsatellite markers and one SNP flanking the ATNX7 gene were genotyped and the ancestral origin and local ancestry analysis of the SCA7 mutation were evaluated. Ninety individuals from 19 families had the SCA7 mutation; all were found to share a common haplotype, suggesting that the mutation in these families originated from a common ancestor. Ancestral origin and local ancestry analysis of SCA7 showed that the chromosomal segment containing the mutation was of European origin. We here present evidence strongly suggesting that the high frequency of SCA7 in Veracruz is due to a founder effect and that the mutation is most likely of European origin with greatest resemblance to the Finnish population.
- Subjects :
- Adult
Genetic Markers
Ataxin 7
Adolescent
Genotype
DNA Mutational Analysis
Nerve Tissue Proteins
Biology
White People
Cellular and Molecular Neuroscience
Young Adult
Genetics
medicine
Humans
Spinocerebellar Ataxias
Allele
Child
Mexico
Genetics (clinical)
Alleles
Aged
Oligonucleotide Array Sequence Analysis
Aged, 80 and over
Ataxin-7
Family Health
Principal Component Analysis
Geography
Haplotype
Autosomal dominant trait
Chromosome Mapping
Middle Aged
medicine.disease
Founder Effect
Haplotypes
Child, Preschool
Mutation (genetic algorithm)
Mutation
Spinocerebellar ataxia
biology.protein
Disease Progression
Microsatellite
Founder effect
Microsatellite Repeats
Subjects
Details
- ISSN :
- 13646753
- Volume :
- 15
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Neurogenetics
- Accession number :
- edsair.doi.dedup.....13f0d4da01e7404855b8631e0e968ff0