Utilizing linkage disequilibrium information from Indian Genome Variation Database for mapping mutations: SCA12 case study.
J Genet
;
2009 Apr; 88(1): 55-60
Article
Dans Anglais
| IMSEAR
| ID: sea-114492
ABSTRACT
Stratification in heterogeneous populations poses an enormous challenge in linkage disequilibrium (LD) based identification of causal loci using surrogate markers. In this study, we demonstrate the enormous potential of endogamous Indian populations for mapping mutations in candidate genes using minimal SNPs, mainly due to larger regions of LD. We show this by a case study of the PPP2R2B gene (approximately 400 kb) that harbours a CAG repeat, expansion of which has been implicated in spinocerebellar ataxia type 12 (SCA12). Using LD information derived from Indian Genome Variation database (IGVdb) on populations which share similar ethnic and linguistic backgrounds as the SCA12 study population, we could map the causal loci using a minimal set of three SNPs, without the generation of additional basal data from the ethnically matched population. We could also demonstrate transferability of tagSNPs from a related HapMap population for mapping the mutation.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Humains
/
Génome humain
/
Déséquilibre de liaison
/
Cartographie chromosomique
/
Ataxies spinocérébelleuses
/
Polymorphisme de nucléotide simple
/
Bases de données génétiques
/
Asiatiques
/
Protein Phosphatase 2
/
Génétique des populations
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
J Genet
Année:
2009
Type:
Article
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