Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women
نویسندگان
چکیده
منابع مشابه
The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing.
Fragile X syndrome results from the unstable expansion of a CGG repeat within the FMR1 gene. Three classes of FMR1 alleles have been identified, normal alleles with 6-60 repeats, premutations with 60-200 repeats, and full mutations with > 230 repeats. Premutations are exquisitely unstable upon transmission. Normal alleles, while generally stable upon transmission, are thought to have different ...
متن کاملTranslation of the FMR1 mRNA is not influenced by AGG interruptions
The fragile X mental retardation 1 (FMR1) gene contains a CGG-repeat element within its 5' untranslated region (5'UTR) which, for alleles with more than approximately 40 repeats, increasingly affects both transcription (up-regulation) and translation (inhibition) of the repeat-containing RNA with increasing CGG-repeat length. Translational inhibition is thought to be due to impaired ribosomal s...
متن کاملThe Role of AGG Interruptions in the Transcription of FMR1 Premutation Alleles
Fragile X associated disorders are caused by a premutation allele in the fragile X mental retardation 1 gene (FMR1) and are hypothesized to result from the toxic effect of elevated levels of expanded FMR1 transcripts. Increased levels of FMR1 mRNA have indeed been reported in premutation carriers; however the mechanism by which expanded alleles lead to elevated levels of FMR1 mRNA in premutatio...
متن کاملThe role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective
In 1994, it was suggested that AGG interruptions affect the stability of the fragile X triplet repeat. Until recently, however, this hypothesis was not explored on a large scale due primarily to the technical difficulty of determining AGG interruption patterns of the two alleles in females. The recent development of a PCR technology that overcomes this difficulty and accurately identifies the n...
متن کاملAGG interspersion patterns in the CGG repeat of the FMR1 gene and linked DXS548/FRAXAC1 haplotypes in Brazilian populations.
We have recently described in this journal the distribution of CGG repeats of the FMR1 gene, the allelic frequencies at DXS548 and FRAXAC1 microsatellite loci, and DXS548/FRAXAC1 haplotype frequencies in African-derived, European-derived, and Amerindian populations from South America [Mingroni-Netto et al., 2002]. The CGG repeat sequences and AGG interspersion patterns were not available at tha...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2014
ISSN: 1098-3600,1530-0366
DOI: 10.1038/gim.2014.64