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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

 

TSitologiia i genetika 2002, v 36, Issue 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.

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 // Tsitol Genet. – 2002. – 36(4). – P. 53-56.



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