Starting from the proportion of compound heterozygotes gives an u

Starting from the proportion of compound heterozygotes gives an unbiased estimate and therefore at least PCI-34051 datasheet represents an additional tool to determine disease frequency in the general population. Of course our method has some limitations

Sapanisertib supplier too. Firstly, inferences can only be made about the population to which the cases belong. If a population is non-homogeneous as to the frequency of consanguineous matings, population stratification has to be taken into account. Secondly, for any recessive disorder, the number of compound heterozygotes among affected children of consanguineous parents will be limited. This means that estimates of the proportion of compound heterozygotes will tend to have rather wide confidence intervals, which will persist in derived figures. Nevertheless, a provisional estimate of the frequency of pathogenic alleles using our method can be useful before embarking on larger studies, or as a check when other data are already available. Acknowledgment We acknowledge the financial support from the Netherlands Organization for Health Research and Development (ZonMw, project no. 60040005) Open Access This article is distributed under the terms of the Creative Commons

Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited. References Bittles AH, Black ML (2009) Consanguinity, human evolution and complex diseases. Proc Natl Acad Sci USA (in press) Koochmeshgi J, Bagheri A, Hosseini-Mazinani SM (2002) Incidence of phenylketonuria

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“Introduction The term community genetics originated separately in biology and medicine. Community genetics is a field of research within biology, analysing evolutionary genetic processes that occur among interacting populations in communities.

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