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Similar prevalence of expanded CGG repeat lengths in the fragile X mental retardation I gene among infertile women and among women with proven fertility : a prospective study

De Geyter, C. and M'Rabet, N. and De Geyter, J. and Zurcher, S. and Moffat, R. and Bosch, N. and Zhang, H. and Heinimann, K.. (2014) Similar prevalence of expanded CGG repeat lengths in the fragile X mental retardation I gene among infertile women and among women with proven fertility : a prospective study. Genetics in medicine, Vol. 16, H. 5. pp. 374-378.

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Official URL: http://edoc.unibas.ch/dok/A6338665

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Abstract

Purpose:We sought to determine the usefulness of fragile X mental retardation 1 (FMR1) carrier testing among young infertile women with or without signs of ovarian insufficiency as compared with fertile women.Methods:Three cohorts of women were recruited to determine the cytosine-guanine-guanine (CGG) repeats trinucleotide repeat length in the 5'-untranslated region of the FMR1 gene in lymphocyte DNA. A total of 199 fertile women, who were reported to have conceived within 3 months, were recruited together with 372 infertile women with ongoing menstrual cycles and 48 infertile women with primary ovarian insufficiency. The various ranges of FMR1 CGG repeat lengths among infertile women were compared with those of fertile controls. In infertile women with ongoing menstrual cycles, the serum concentrations of follicle-stimulating hormone, anti-Muellerian hormone, and inhibin B were measured during the early follicular phase.Results:None of the three categories of FMR1 CGG repeat length expansions (premutation, intermediate range, and high normal range) were more prevalent among infertile women than among fertile women. The CGG repeat length was not correlated with any of the ovarian reserve parameters.Conclusion:In comparison with a generalized preconception screening strategy, infertility as a criterion, even together with reduced ovarian reserve, is not suitable for identifying a higher proportion of women with expanded FMR1 CGG repeat length.Genet Med advance online publication 10 October 2013Genetics in Medicine (2013); doi:10.1038/gim.2013.146.
Faculties and Departments:03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Gynecological Endocrinology (de Geyter)
UniBasel Contributors:de Geyter, Christian M.H.R.
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:Nature Publishing Group
ISSN:1530-0366
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:06 Mar 2015 07:44
Deposited On:06 Mar 2015 07:44

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