AI Article Synopsis
- The study analyzed CGG repeats in the gene associated with fragile X syndrome in 449 males and 207 females, using various PCR methods for testing.
- Results showed that 1.1% of males had premutation alleles, while 9.7% had full mutation alleles, with a small percentage of males being mosaic for both types.
- In females, 1.9% were found to be GZ carriers, and 5.8% were premutation carriers, with successful prenatal diagnoses identifying both types in male and female embryos.
Article Abstract
The CGG repeats in the gene expand in patients with fragile X syndrome, fragile X-associated tremour/ataxia syndrome and fragile X-associated primary ovarian failure. In this study, the CGG repeats in the gene were studied in 449 males and 207 females using traditional polymerase chain reaction and triplet repeat primed PCR methods, also 18 CVS samples (six males and 12 females) were tested for prenatal diagnosis. Further, methylation sensitive multiplexed ligation dependent probe amplification was performed on some samples to confirm the results. Regarding the male patients, 1.1% and 9.7% had premutation (PM) and full mutation (FM) alleles, respectively. Also three (0.66%) male patients were mosaic for PM and FM alleles. Among females, 1.9% were GZ carriers and 5.8% were PM carriers. Prenatal diagnosis resulted in detection of two PM and one FM males as well as one FM carrier female. Our results were in concordance with the previously published results.
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