β Scribed by Ritchie, Rachael J.; Chakrabarti, Lisa; Knight, Samantha J. L.; Harding, Rosalind M.; Davies, Kay E.
No coin nor oath required. For personal study only.
Most of the rare folate sensitive fragile sites cloned to date arise from expansion of a C G G : CCG trinucleotide repeat array. Analysis of the CAG repeat at the Huntington Disease (HD) locus showed a positively skewed repeat distribution leading to the proposal that microsatellites are subject to a mutational bias toward expansion. Such a mutational bias predicts an increase in mean repeat size at all microsatellite loci. We present an analysis of repeats at two fragile site loci, FRAXE and FRAXF, and a novel CGG repeat in Xq28, in five different human populations, which suggests that these loci may also be subject to the same mutation process. The novel repeat array may represent the first evidence for the existence of a fourth fragile site in Xq27.
π SIMILAR VOLUMES
This study presents the first large, population-based molecular investigation of the fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic populations of Greece and Cyprus. The aims of this population screening were to determine the prevalence of FRAXA and FRAXE syndromes among id
In order to identify genetic factors governing expansion of the CGG repeat in the FMR1 gene and to determine what predisposes or causes a normal stable allele to change to an unstable premutation allele, it is essential to study and understand the basis of normal variation. The aim of this study was
Recently, it has been suggested that trinucleotide repeat-containing genes may be involved in the etiology of schizophrenia. This study was aimed at investigating putative associations between allelic variants or expansions of CAG repeat-containing genes (CAGrCG) and schizophrenia or its variability
When a vicious attack leaves 25-year-old Clementine Johns with no memory, sheβs forced to start over. Now she has to figure out who she was and why she made the choices she did β which includes leaving the supposed love of her life, tattoo artist Ed Larsen, only a month before. Ed can hardly beli