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Grishchenko N.V., Malyarchuk S.G., Ekshiyan A.Yu., Bychkova A.M., Livshits L.A.
The Methylation Status of the FMR1 Gene Promotor in Patients with Martin-Bell Syndrome from Ukraine
Cytology and Genetics 2002, v 36, number 4, 53-56
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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