Evidence of a Common Founder for SCA12 in the Indian Population
| Autor: | Mohinder Pal Sachdeva, S. Jain, Elizabeth O'Hearn, Mitali Mukerji, Achal Kumar Srivastava, Uma Mittal, A.K. Kalla, Russell L. Margolis, K. Virdi, Samira Bahl, Susan E. Holmes |
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| Rok vydání: | 2005 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Ataxia Genotype Population India Nerve Tissue Proteins Single-nucleotide polymorphism Biology Polymerase Chain Reaction Polymorphism Single Nucleotide PPP2R2B Linkage Disequilibrium Autosomal dominant cerebellar ataxia Phosphoprotein Phosphatases Genetics medicine Humans Spinocerebellar Ataxias Protein Phosphatase 2 Allele education Alleles Genetics (clinical) Repetitive Sequences Nucleic Acid education.field_of_study Polymorphism Genetic Models Genetic Haplotype Exons medicine.disease Founder Effect Introns Haplotypes Mutation Spinocerebellar ataxia Female medicine.symptom Microsatellite Repeats |
| Zdroj: | Annals of Human Genetics. 69:528-534 |
| ISSN: | 1469-1809 0003-4800 |
| DOI: | 10.1046/j.1529-8817.2005.00173.x |
| Popis: | Spinocerebellar ataxia type 12 (SCA12) is an autosomal dominant cerebellar ataxia associated with the expansion of an unstable CAG repeat in the 5' region of the PPP2R2B gene on chromosome 5q31-5q32. We found that it accounts for approximately 16% (20/124) of all the autosomal dominant ataxia cases diagnosed in AIIMS, a major tertiary referral centre in North India. The length of the expanded allele in this population ranges from 51-69 CAG triplets. Interestingly, all the affected families belong to an endogamous population, which originated in the state of Haryana, India. We identified four novel SNPs and a dinucleotide marker spanning approximately 137 kb downstream of CAG repeat in the PPP2R2B gene. Analysis of 20 Indian SCA12 families and ethnically matched normal unrelated individuals revealed one haplotype to be significantly associated with the affected alleles (P= 0.000), clearly indicating the presence of a common founder for SCA12 in the Indian population. This haplotype was not shared by the American pedigree with SCA12. Therefore, the SCA12 expansion appears to have originated at least twice. |
| Databáze: | OpenAIRE |
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