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ISSN 2070-8718 (Print)

2015, Number 2

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Rev Cub Gen 2015; 9 (2)

Molecular diagnosis of Fragile X syndrome through methylation-specific PCR

Esperón ÁAA, Merencio SL, López RI, Reyes NL, García HM, Collazo MT

Language: Spanish
References: 29
Page: 17-23
PDF size: 530.38 Kb.


ABSTRACT

Fragile X syndrome (FXS) is caused by epigenetic silencing of the FMR1 gene, due to increment over 200 repeats of the trinucleotide CGG in the 5’UTR. The expansions between 55 and 200 repeats, named premutation, tend to expand to full mutation on maternal transmission. Premutated carriers can develop fragile X-associated tremor/ataxia syndrome or fragile X-associated primary ovarian insufficiency (FXPOI). In this work we describe the results of the molecular analysis of the FMR1 gene in 251 individuals with clinical evidence of SXF or with family history of this disease, as in 14 fetuses of mothers at the risk of having affected children. The analysis was performed using methylation-specific PCR. We identified 16 males and 4 females with full mutation, 3 mosaic males, and 4 males and 21 women with permutation, 8 of them with a high risk to transmit the disease. We confirm the clinical diagnostic of FXPOI in two women and FXS in 20 patients with intellectual disability. The allelic frequency distribution differs from the reported for other populations.


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