ArticleAmerican journal of human genetics1996
FMR1 in global populations.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
24 citing papers in PubMed.
- Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.Nature reviews. Genetics · 2024Review
- Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles.American journal of medical genetics. Part A · 2019Article
- Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo.Journal of community genetics · 2019Article
- Trinucleotide Repeat Expansion Diseases, RNAi, and Cancer.Trends in cancer · 2018Review
- CGG repeat length and AGG interruptions as indicators of fragile X-associated diminished ovarian reserve.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Human DNA Helicase B as a Candidate for Unwinding Secondary CGG Repeat Structures at theFrontiers in molecular neuroscience · 2018Article
- Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency.Genes · 2017Article
- Distribution of AGG interruption patterns within nine world populations.Intractable & rare diseases research · 2014Article
- AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2012Article
- Identification of expanded alleles of the FMR1 gene among high-risk population in Indonesia by using blood spot screening.Genetic testing and molecular biomarkers · 2012Article
- Fragile X syndrome: the FMR1 CGG repeat distribution among world populations.Annals of human genetics · 2012Review
- Fragile X CGG repeat variation in Tamil Nadu, South India: a comparison of radioactive and methylation-specific polymerase chain reaction in CGG repeat sizing.Genetic testing and molecular biomarkers · 2012Article
- FMR1 gray-zone alleles: association with Parkinson's disease in women?Movement disorders : official journal of the Movement Disorder Society · 2011Article
- An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis.The Journal of molecular diagnostics : JMD · 2010Article
- Genetic diversity of the fragile X syndrome gene (FMR1) in a large Sub-Saharan West African population.Annals of human genetics · 2010Article
- Evolutionary genomics of human intellectual disability.Evolutionary applications · 2010Article
- Decisions to participate in fragile X and other genomics-related research: Native American and African American voices.Journal of cultural diversity · 2009Article
- The AGG interruption pattern within the CGG repeat of the FMR1 gene among Taiwanese population.Journal of genetics · 2008Article
- Analysis of the Fragile X Trinucleotide Repeat in Basques: Association of Premutation and Intermediate Sizes, Anchoring AGGs and Linked Microsatellites with Unstable Alleles.Current genomics · 2008Article
- Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes.Human mutation · 2007Article
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
Fragile X syndrome, a frequent form of inherited mental retardation, results from the unstable expansion of a cryptic CGG repeat within the 5' UTR region of the FMR1 gene. The CGG repeat is normally polymorphic in length, and the content is frequently interrupted by AGG triplets. These interruptions are believed to stabilize the repeat, and their absence, leading to long tracts of perfect CGG repeats, may give rise to predisposed alleles. In order to examine the stability of normal FMR1 alleles, the repeat length of 345 chromosomes from nine global populations was examined with the content also determined from 114 chromosomes as assessed by automated DNA sequencing. The FMR1 alleles, defined by the CGG repeat, as well as by the haplotypes of nearby polymorphic loci, were very heterogeneous, although the level of variation correlated with the age and/or genetic history of a particular population. Native American alleles, interrupted by three AGG repeats, exhibited marked stability over 7,000 years. However, in older African populations, parsimony analysis predicts the occasional loss of an AGG, leading to more perfect CGG repeats. These data therefore support the suggestion that AGG interruptions enhance the stability of the FMR1 repeat and indicate that the rare loss of these interruptions leads to alleles with longer perfect CGG-repeat tracts.
Indexed as
Identifiers
8644711PMC1914573What OpenQuestion holds
Registered trials
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