Article
Fragile X founder chromosomes in Italy: a few initial events and possible explanation for their heterogeneity.
American journal of medical genetics - 12 Jul 1996
Chiurazzi P, Genuardi M, Kozak L, Giovannucci-Uzielli M L, Bussani C, Dagna-Bricarelli F, Grasso M, Perroni L, Sebastio G, Sperandeo M P, Oostra B A, Neri G
Abstract excerpt
A total of 137 fragile X and 235 control chromosomes from various regions of Italy were haplotyped by analyzing two neighbouring marker microsatellites, FRAXAC1 and DXS548. The number of CGG repeats at the 5' end of the FMR1 gene was also assessed in 141 control chromosomes and correlated with their haplotypes. Significant linkage disequilibrium between some "major" haplotypes and fragile X was observed, while...
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