Fragile X founder effects in Argentina
β Scribed by Bonaventure, Gustavo; Torrado, Maria; Barreiro, Cristina; Chertkoff, Lilien
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 26 KB
- Volume
- 79
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980923)79:3<200::aid-ajmg10>3.0.co;2-l
No coin nor oath required. For personal study only.
β¦ Synopsis
To investigate the origin of fragile X mutations in the Argentine population, we studied the alleles and haplotypes at DXS548 and FRAXAC1 loci of 42 unrelated fragile X chromosomes and 168 normal ones. Four haplotypes presented in linkage disequilibrium and accounted for 76.2% of fragile X chromosomes, representing the high frequency of haplotype DXS548-FRAXAC1 7-1 (26.2%) characteristic of our population. FRAXAC1 allele 1 was observed on 47.6% of fragile X chromosomes. Thus, we provide evidence for fragile X founder effects in the Argentine population, similar to those observed in Caucasians and in Asians.
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