Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 20, Issue 1, Pages 41-49Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2011.154
Keywords
SCA2; genetic polymorphisms; ataxin-2; Cuba
Funding
- Third World Academy of Sciences -TWAS- [06-329 RG/BIO/LA UNESCO FR: 3240157855]
- Cuban Ministry of Health
- Science and Technology Ministry
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The role of short, large or intermediate normal alleles (ANs) of the ataxin-2 gene in generating expanded alleles (EAs) causing spinocerebellar ataxia type 2 (SCA2) is poorly understood. It has been postulated that SCA2 prevalence is related to the frequency of large ANs. SCA2 shows the highest worldwide prevalence in Cuban population, which is therefore a unique source for studying the relationship between the frequency of large and intermediate alleles and the frequency of SCA2 mutation. Through genetic polymorphism analyses in a comprehensive sample (similar to 3000 chromosomes), we show that the frequency of large ANs in the ataxin-2 gene is the highest worldwide, although short ANs are also frequent. This highly polymorphic population displayed also high variability in the CAG sequence, featured by loss of the anchor CAA interruption(s). In addition, large ANs showed germinal and somatic instability. Our study also includes related genotypic, genealogical and haplotypic data and provides substantial evidence with regard to the role of large and intermediate alleles in the generation of pathological EAs. European Journal of Human Genetics (2012) 20, 41-49; doi:10.1038/ejhg.2011.154; published online 21 September 2011
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