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Fragile X founder effects in Argentina

✍ 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

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✦ 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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