Analysis of CGG variation through 642 meioses in Fragile X families
نویسندگان
چکیده
منابع مشابه
Analysis of CGG variation through 642 meioses in Fragile X families.
Fragile X syndrome is the commonest familial form of inherited mental retardation. The molecular defect is an expansion of the CGG trinucleotide repeats in the 5' untranslated region of the FMR1 gene that is inherited in an unstable fashion in fragile X families. In an attempt to provide more information about the CGG tract intergenerational variation, we have evaluated 642 transmissions in 175...
متن کاملTwelve families with fragile X(q27).
Through a community study of boys requiring special education for the severely mentally retarded, 12 families were ascertained in which the fragile X was found to be segregating. By assiduous follow up of these families, it was found that in only four of them could male transmission be ruled out from the grandparents' or great grandparents' generation and that the segregation ratios are disturbed.
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Instability of the fragile X CGG repeat involves both maternally derived expansions and deletions in the gametes of full-mutation males. It has also been suggested that the absence of aberrant CpG methylation may enhance repeat deletions through an unknown process. The effect of CGG tract length, DNA replication direction, location of replication initiation, and CpG methylation upon CGG stabili...
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Large expansions of a CGG-repeat element (>200 repeats; full mutation) in the fragile X mental retardation 1 (FMR1) gene cause fragile X syndrome (FXS), the leading single-gene form of intellectual disability and of autism spectrum disorder. Smaller expansions (55-200 CGG repeats; premutation) result in the neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS). Whereas...
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We report on further cases of high functioning fragile X males showing decreased expression of FMR1 protein, absence of detectable methylation at the EagI site in the FMR1 gene promoter, and highly unusual patterns of fragile X mutations defined as smear of expansions extending from premutation to full mutation range. Very diffuse and therefore not easily detectable patterns of full mutations w...
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ژورنال
عنوان ژورنال: MHR: Basic science of reproductive medicine
سال: 2004
ISSN: 1460-2407,1360-9947
DOI: 10.1093/molehr/gah102