ArticleAnnals of human genetics2010
Genetic diversity of the fragile X syndrome gene (FMR1) in a large Sub-Saharan West African population.
Article in Annals of human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 16 citations in OpenAlex.
- A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa.Genes · 2024Review
- Huntington disease-like 2: insight into neurodegeneration from an African disease.Nature reviews. Neurology · 2024Review
- Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo.Journal of community genetics · 2019Article
- Review
- Distribution of fragile X mental retardation 1 CGG repeat and flanking haplotypes in a large Chinese population.Molecular genetics & genomic medicine · 2015Article
- Genome-wide association studies in Africans and African Americans: expanding the framework of the genomics of human traits and disease.Public health genomics · 2015Review
- Distribution of AGG interruption patterns within nine world populations.Intractable & rare diseases research · 2014Article
- Fragile X syndrome: the FMR1 CGG repeat distribution among world populations.Annals of human genetics · 2012Review
- Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.Acta neuropathologica · 2011Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Fragile X syndrome (OMIM #300624) is caused by the expansion of a CGG trinucleotide repeat found in the 5' untranslated region of the X-linked FMR1 gene. Although examinations of characteristics associated with repeat instability and expansion of the CGG repeat upon transmission from parent to offspring has occurred in various world populations, none has been conducted in large Sub-Saharan African populations. We have examined the FMR1 CGG repeat structure in a sample of 350 males drawn from the general population of Ghana. We found that Ghanaians and African Americans have similar allele frequency distributions of CGG repeat and its flanking STR markers, DXS548 and FRAXAC1. However, the distribution of the more complex marker, FRAXAC2, is significantly different. The haplotype structure of the FMR1 locus indicated that Ghanaians share several haplotypes with African Americans and Caucasians that are associated with the expanded full mutation. In Ghanaians, the majority of repeat structures contained two AGG interruptions, however, the majority of intermediate alleles (35-49) lacked AGG interruptions. Overall, we demonstrate that allelic diversity of the FMR1 locus among Ghanaians is comparable to African Americans, but includes a minority of CGG array structures not found in other populations.
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