ArticleAmerican journal of human genetics1999
Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.Human genetics · 2015Trial
- Transformative approaches in hemophilia management: from traditional therapies to prenatal stem cell treatment.Frontiers in bioengineering and biotechnology · 2025Review
- The Clinical Genetics of Hemophilia B (Factor IX Deficiency).The application of clinical genetics · 2021Review
- Recent advances in hemophilia B therapy.Drug delivery and translational research · 2017Review
- Hemophilia B: molecular pathogenesis and mutation analysis.Journal of thrombosis and haemostasis : JTH · 2015Review
- Article
- The imprinted gene and parent-of-origin effect database now includes parental origin of de novo mutations.Nucleic acids research · 2006Article
- Are rare variants responsible for susceptibility to complex diseases?American journal of human genetics · 2001Article
- Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.American journal of human genetics · 2001Article
- The X chromosome and the rate of deleterious mutations in humans.American journal of human genetics · 2000Article
- Permanence or change? The meaning of genetic variation.Proceedings of the National Academy of Sciences of the United States of America · 2000Article
- Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B.American journal of human genetics · 1999Article
Corrections and comments
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Authors and funding
4 authors.
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Abstract
A population-based study of hemophilia B mutations was conducted in the United Kingdom in order to construct a national confidential database of mutations and pedigrees to be used for the provision of carrier and prenatal diagnoses based on mutation detection. This allowed the direct estimate of overall (micro), male (v), and female (u) mutation rates for hemophilia B. The values obtained per gamete per generation and the 95% confidence intervals are micro;=7.73 (6. 29-9.12&parr0;x10-6; v=18.8 (14.5-22.9&parr0;x10-6; and u=2.18 (1. 44-3.16&parr0;x10-6. The ratio of male-to-female mutation rates is 8. 64, with a 95% confidence interval of 5.46-14.5. The higher male rate was not caused by a much higher rate of transition at CpG sites in the male. Attempts to detect evidence of gonadal mosaicism for hemophilia B mutation in suitable families did not detect any instances of ovarian mosaicism in any of 47 available opportunities. This suggests that the risk of a noncarrier mother manifesting as a gonadal mosaic by transmitting the mutation to a second child should be <0.062.
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