Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles
نویسندگان
چکیده
منابع مشابه
The 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 کاملPrevalence and Instability of Fragile X Alleles
METHODS: Fragile X DNA analysis by Southern blot and polymerase chain reaction was completed for 14,675 women, aged 18 years or older, and 238 motheroffspring pairs between January 1999 and June 2004. Carrier frequencies were compared between groups referred for different clinical indications. Direct comparison of the FMR1 gene CGG repeat size in mother-offspring pairs determined intermediate a...
متن کاملFragile X and other trinucleotide repeat diseases.
Hereditary unstable DNA is composed of strings of trinucleotide repeats, in which three nucleotides are repeated over and over (ie CAGCAGCAGCAG). These repeats are found in several sites within genes; depending on their location, the number of triplet repeats in a string can change as it is passed on to offspring. When the number of repeats increases to a critical size, it can have a variety of...
متن کاملDistribution of AGG interruption patterns within nine world populations.
The CGG trinucleotide repeat within the FMR1 gene is associated with multiple clinical disorders, including fragile X-associated tremor/ataxia syndrome, fragile X-associated primary ovarian insufficiency, and fragile X syndrome. Differences in the distribution and prevalence of CGG repeat length and of AGG interruption patterns have been reported among different populations and ethnicities. In ...
متن کاملMechanism of Repeat-Associated MicroRNAs in Fragile X Syndrome
The majority of the human genome is comprised of non-coding DNA, which frequently contains redundant microsatellite-like trinucleotide repeats. Many of these trinucleotide repeats are involved in triplet repeat expansion diseases (TREDs) such as fragile X syndrome (FXS). After transcription, the trinucleotide repeats can fold into RNA hairpins and are further processed by Dicer endoribonuclases...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2013
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.35833