Cytology and Genetics ,
vol. ,
no. , ,
doi: https://www.doi.org/
The methylation status of the FMR1 gene promotor was studied in 8 patients with detected CGG-expansion or negative PCR analysis (CGG-expansion or deletion). In all these causes the methylation status was detected. The modified PCR protocol of Hin6.I-restricted DNA has been proposed for performing diagnosis, postnatal and prenatal diagnostics and for screening patients with mental retardation and newborn boys.
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