Fragile X syndrome

Molecular analysis of patients suspected of Fragile X Syndrome

A. P. Amancio, Melo, C. Ade O., A. Vieira, deM., Minasi, L. B., D. Silva, deM. e, da Silva, C. C., and da Cruz, A. D., Molecular analysis of patients suspected of Fragile X Syndrome, vol. 14, pp. 14660-14669, 2015.

The aim of this study was to validate the molecular genetic diagnosis of patients suspected of Fragile X Syndrome (FXS) in the Laboratory of Human Cytogenetics and Molecular Genetics (LaGene) of the Department of Health of the State of Goiás, using polymerase chain reaction (PCR). Thirty-five patients referred by public health doctors to LaGene, indicating clinical diagnosis of FXS, were selected for this study. Two PCR analyses were performed using different primers, one for screening (PCR-T) and one for the detection of the pre-mutation (PCR-P).

Screening for fragile X syndrome in males from specialized institutions in the northeast region of Brazil

M. T. M. Viveiros, Santos, M. D. C., Santos, J. M. Dos, Viveiros, D. M., Cavalcante, M. R. M., Caldas, A. J. M., and Pimentel, M. M. G., Screening for fragile X syndrome in males from specialized institutions in the northeast region of Brazil, vol. 14. pp. 6897-6905, 2015.

The objective of this study was to perform a study of fragile X syndrome (FXS) in São Luís, Maranhão, in males residing in five specialized institutions. Two hundred thirty-eight males with intel­lectual disability of unknown etiology participated in this study. Blood samples were processed and stored until DNA extraction. Screening for FMR1 gene mutations was performed using non-isotopic polymerase chain reaction amplification and DNA sequencing using an ABI Prism 3130 automated sequencer. Two individuals (0.84%) were positive for FMR1 mutations.

Multiple displacement amplification for preimplantation genetic diagnosis of fragile X syndrome

H. - S. Lee, Kim, M. J., Lim, C. K., Cho, J. W., Song, I. O., and Kang, I. S., Multiple displacement amplification for preimplantation genetic diagnosis of fragile X syndrome, vol. 10. pp. 2851-2859, 2011.

Preimplantation genetic diagnosis (PGD) has become an assisted reproductive technique for couples that have genetic risks. Despite the many advantages provided by PGD, there are several problems, including amplification failure, allele drop-out and amplification inefficiency. We evaluated multiple displacement amplification (MDA) for PGD of the fragile X syndrome. Whole genome amplification was performed using MDA. MDA products were subjected to fluorescent PCR of fragile X mental retardation-1 (FMR1) CGG repeats, amelogenin and two polymorphic markers.

Screening for fragile X syndrome among Brazilian mentally retarded male patients using PCR from buccal cell DNA

D. M. Christofolini, Lipay, M. V. N., Ramos, M. A. P., Brunoni, D., and Melaragno, M. I., Screening for fragile X syndrome among Brazilian mentally retarded male patients using PCR from buccal cell DNA, vol. 5, pp. 448-453, 2006.

Fragile X syndrome is one of the most frequent causes of mental retardation. Since the phenotype in this syndrome is quite variable, clinical diagnosis is not easy and molecular laboratory diagnosis is necessary. Usually DNA from blood cells is used in molecular tests to detect the fragile X mutation which is characterized by an unstable expansion of a CGG repeat in the fragile X mental retardation gene (FMR1). In the present study, blood and buccal cells of 53 mentally retarded patients were molecularly analyzed for FMR1 mutation by PCR.

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