ArticleAmerican journal of human genetics1995
Population dynamics of a meiotic/mitotic expansion model for the fragile X syndrome.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors.Journal of genetic counseling · 2005Guideline
- At what rate do new premutation alleles arise at the fragile X locus?Human genetics · 2013Article
- Unstable mutations in the FMR1 gene and the phenotypes.Advances in experimental medicine and biology · 2012Review
- Genetic diversity of the fragile X syndrome gene (FMR1) in a large Sub-Saharan West African population.Annals of human genetics · 2010Article
- The FMR1 gene and fragile X-associated tremor/ataxia syndrome.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2009Review
- Genetic Counseling for Fragile X Syndrome: Recommendations of the National Society of Genetic Counselors.Journal of genetic counseling · 2000Article
- Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population.American journal of human genetics · 1999Article
- Familial transmission of the FMR1 CGG repeat.American journal of human genetics · 1996Article
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
A model to explain the mutational process and population dynamics of the fragile X syndrome is presented. The mutational mechanism was assumed to be a multipathway, multistep process. Expansion of CGG repeats was based on an underlying biological process and was assumed to occur at two time points: meiosis and early embryonic development (mitosis). Meiotic expansion was assumed to occur equally in oogenesis and spermatogenesis, while mitotic expansion was restricted to somatic, or constitutional, alleles of maternal origin. Testable hypotheses were predicted by this meiotic/mitotic model. First, parental origin of mutation is predicted to be associated with the risk of a woman to have a full mutation child. Second, "contractions" seen in premutation male transmissions are predicted not to be true contractions in repeat size, but a consequence of the lack of mitotic expansion in paternally derived alleles. Third, a portion of full-mutation males should have full-mutation alleles in their sperm, due to the lack of complete selection against the full-mutation female. Fourth, a specific premutation-allele frequency distribution is predicted and differs from that based on models assuming only meiotic expansion. Last, it is predicted that approximately 65 generations are required to achieve equilibrium, but this depends greatly on the expansion probabilities.
Indexed as
Identifiers
8533772PMC1801421What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.