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DXS548/FRAXAC1 haplotypes in fragile X chromosomes in the Brazilian population

✍ Scribed by Mingroni-Netto, Regina C.; Costa, S�lvia S.; Angeli, Cl�udia B.; Vianna-Morgante, Angela M.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 22 KB
Volume: 84
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990528)84:3<204::aid-ajmg7>3.0.co;2-j

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✦ Synopsis

In order to investigate the origin of the fragile X mutation in the Brazilian population, we assessed the size of the microsatellite markers DXS548, FRAXAC1 and FRAXAC2 in 72 X chromosomes from unrelated affected males and 64 control chromosomes. We found a significantly different distribution of alleles between fragile X and controls for loci DXS548 and FRAXAC1, but no apparent linkage disequilibrium was detected for the sequence FRAXAC2. The most frequent DXS548/FRAXAC1 haplotypes in affected males were haplotypes 204/158 bp (2-1) and 196/152 bp (6-4). These findings are in accordance with the proposed two main mutational pathways for the generation of FMR-1 alleles that predispose to instability and hyperexpansion.

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