title: FMR1 gene mutation screening by TP-PCR in patients with premature ovarian failure and fragile-X.
abstract: CGG repeat expansion in the FMR1 gene is associated with fragile X syndrome, fragile X-associated tremor/ ataxia syndrome and fragile X-associated primary ovarian insufficiency. In this study, FMR1 gene mutation screening was carried out in 50 patients. Among them, 12 (%24) were POF and 19 (%38) were Fragile-X. We also examined the parents of the Fragile-X patients. DNA was extracted from blood with kit procedure. To examine expansion of the fragile-X CGG repeat, TP-PCR assay was performed and all amplicons were evaluated on an ABI3130XL Genetic Analyzer System by Fragman analysis. The data were analyzed by Gene Mapper Program. As a result of this study, the patients were identified with the fragile-X whose FMR1 gene CGG alleles have been observed in normal range. However, in patients who were referred with premature ovarian failure, pre-mutation frequency was observed as 6.6%. Only limited study in Turkish population reported frequency of pre-mutation carrier in POF and Fragile-X. Detection of pre-mutation carrier is important for next generation to have healthy siblings. We emphasize that TP-PCR technique is clear, reliable, sensitive, easy and fast method to detect pre-mutation. However, full mutations have to be examined by the technique of Southern blot in the diagnosis of fragile-X.
authors.affiliation: Faculy of Medicine, Department of Medical Biology, Section of Medical Genetics .
authors.forename: Sengul
authors.initials: S
authors.lastname: Tural
authors.forename: Akın
authors.initials: A
authors.lastname: Tekcan
authors.forename: Nurten
authors.initials: N
authors.lastname: Kara
authors.forename: Mehmet
authors.initials: M
authors.lastname: Elbistan
authors.forename: Davut
authors.initials: D
authors.lastname: Güven
authors.forename: Haydar
authors.initials: H
authors.lastname: Ali Tasdemir
mesh_terms: D000483:Alleles; D004252:DNA Mutational Analysis; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D008594:Menopause, Premature / Q000235:genetics; D009154:Mutation; D016133:Polymerase Chain Reaction; D016649:Primary Ovarian Insufficiency / Q000235:genetics*
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human
keywords: Folliculogenesis; menopause; ovary