FMR1 CGG Repeats
نویسندگان
چکیده
منابع مشابه
Facile FMR1 mRNA structure regulation by interruptions in CGG repeats
RNA metabolism is a major contributor to the pathogenesis of clinical disorders associated with premutation size alleles of the fragile X mental retardation (FMR1) gene. Herein, we determined the structural properties of numerous FMR1 transcripts harboring different numbers of both CGG repeats and AGG interruptions. The stability of hairpins formed by uninterrupted repeat-containing transcripts...
متن کاملCurvilinear association of CGG repeats and age at menopause in women with FMR1 premutation expansions.
In a sample of post-menopausal premutation carrier mothers of children with the full mutation of fragile X syndrome (n = 88), this study examined the co-occurrence of the reproductive and psychiatric phenotypes associated with FMR1 premutations. Mean age at menopause was 43.1 years, and 35.2% of premutation carriers reported cessation of menses prior to age 40 (premature ovarian failure), but o...
متن کاملThe association of CGG repeats in the FMR1 gene and timing of natural menopause.
STUDY QUESTION Is there an association between the number of CGG repeats in the FMR1 gene in the normal and intermediate range and age at natural menopause? SUMMARY ANSWER The number of CGG repeats in the normal and intermediate range in the FMR1 gene was not associated with age at natural menopause. WHAT IS KNOWN ALREADY Excessive triple CGG repeats in the FMR1 gene have been widely associ...
متن کاملFMR1 CGG expansions: prevalence and sex ratios.
We have estimated the prevalence of FMR1 premutation and gray zone CGG repeat expansions in a population-based sample of 19,996 male and female adults in Wisconsin and compared the observed sex ratios of the prevalence of FMR1 CGG premutation and gray zone expansions to theoretical sex ratios. The female premutation prevalence was 1 in 148 and comparable to past research, but the male premutati...
متن کاملRe-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1.
In at least 98% of fragile X syndrome cases, the disease results from expansion of the CGG repeat in the 5' end of FMR1. The use of microsatellite markers in the FMR1 region has revealed a disparity of risk between haplotypes for CGG repeat expansion. Although instability appears to depend on both the haplotype and the AGG interspersion pattern of the repeat, these factors alone do not complete...
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ژورنال
عنوان ژورنال: Reproductive Sciences
سال: 2016
ISSN: 1933-7191,1933-7205
DOI: 10.1177/1933719116632927