© 2004 BMJ Publishing Group Ltd
LETTER TO JMG
Heterozygote excess is repeatedly observed in females at the BRCA2 locus N372H
1 Division of Genomic Medicine, University of Sheffield, Sheffield, UK
2 Institute of Cell, Animal and Population Biology, Ashworth Laboratories, West Mains Road, University of Edinburgh, Edinburgh, Scotland, EH9 3JT, UK
3 Genetic Epidemiology Division, Cancer Research UK Clinical Centre, St James’s University Hospital, Leeds, UK
Correspondence to:
Correspondence to:
M D Teare, PhD
Mathematical Modelling and Genetic Epidemiology, Division of Genomic Medicine, University of Sheffield, Royal Hallamshire Hospital, Glossop Road, Sheffield, S10 2JF, UK; m.d.teare@sheffield.ac.uk
Accepted 12 March 2004
Keywords: BRCA2 N372H; random effects; population genetics; stable polymorphism
| The first 150 words of the full text of this article appear below. |
Evidence of genotype specific selection at the BRCA2 polymorphism N372H was originally reported by Healey et al.1 These workers found significant evidence of a heterozygous excess in women control samples when studying the polymorphism for breast cancer association. They then genotyped a large series of newborn boys and girls to examine if this effect was also seen at birth. The newborn girls were consistent with the women but the newborn boys were significantly different. The genotypes in the boys appeared to demonstrate a significant deficit of heterozygotes. Healey et al suggested that sex differential viabilities resulted in a stable allele frequency, but this was not formally investigated. We wanted to explore further this apparent sex specific selection in two ways; to refine the estimates of fitness, and we examined the mathematical properties of the sex specific selection model to determine if the data were consistent with a stable equilibrium.
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