Assessment of FMR1 triplet repeats in patients affected with mental retardation, fragile X syndrome and primary ovarian insufficiency

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dc.contributor.authorSalimy, Zeinaben_US
dc.contributor.authorAkbari, Mohammad Taghien_US
dc.contributor.authorDeilamani, Faravareh Khordadpooren_US
dc.date.accessioned2020-11-18T10:21:10Z
dc.date.available2020-11-18T10:21:10Z
dc.date.issued2020-01
dc.description.abstractThe 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.en_US
dc.identifier.affiliationsDepartment of Biology, Science and Research Branch, Islamic Azad University, Tehran 1477893855, Iranen_US
dc.identifier.affiliationsTehran Medical Genetics Laboratory, No. 10, Moayyer 1 Alley, S Mofatteh Avenue, Taleghani St, Tehran 1581764111, Iranen_US
dc.identifier.affiliationsTehran Medical Genetics Laboratory, No. 10, Moayyer 1 Alley, S Mofatteh Avenue, Taleghani St, Tehran 1581764111, Iranen_US
dc.identifier.citationSalimy Zeinab, Akbari Mohammad Taghi, Deilamani Faravareh Khordadpoor. Assessment of FMR1 triplet repeats in patients affected with mental retardation, fragile X syndrome and primary ovarian insufficiency. Journal of Genetics. 2020 Jan; 99: 1-5en_US
dc.identifier.issn0022-1333
dc.identifier.issn0973-7731
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/215558
dc.languageenen_US
dc.publisherIndian Academy of Sciencesen_US
dc.relation.volume99en_US
dc.source.urihttps://doi.org/10.1007/s12041-019-1171-5en_US
dc.subjectfragile X syndromeen_US
dc.subjectmental retardationen_US
dc.subjectgray zoneen_US
dc.subjectfull mutationen_US
dc.subjectprimary ovarian insufficiency.en_US
dc.titleAssessment of FMR1 triplet repeats in patients affected with mental retardation, fragile X syndrome and primary ovarian insufficiencyen_US
dc.typeJournal Articleen_US
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