The role of AGG interruptions in the transcription of FMR1 premutation alleles.

In male subjects, the slope of the regression line fitted to data from subjects with 0 AGG interruptions showed a marginally significant difference from the slope of the regression line fitted to data from subjects with 1 interruption (P = 0.046); no other significant differences in slopes or intercepts of regression lines were seen for male or female subjects.

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We also, as expected based on previous findings, observed a highly significant correlation between CGG repeat number (as both total length and length of pure CGG stretch) and FMR1 mRNA expression levels, in both males and females.

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