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fragile X syndrome; mental retardation; gray zone; full mutation; primary ovarian insufficiency.

The CGG repeats in the FMR1 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 FMR1 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.

ZEINAB SALIMY¹ MOHAMMAD TAGHI AKBARI² FARAVAREH KHORDADPOOR DEILAMANI²

1. Department of Biology, Science and Research Branch, Islamic Azad University, Tehran 1477893855, Iran
2. Tehran Medical Genetics Laboratory, No. 10, Moayyer 1 Alley, S Mofatteh Avenue, Taleghani St, Tehran 1581764111, Iran

Published

10 January 2020

Manuscript received

4 October 2018

Manuscript revised

2 July 2019

Accepted

11 November 2019