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, www.selleckchem.com/products/PF-2341066.html 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
in Iran estimated from consanguineous marriages. J Inherit Metab Dis 25:80–81CrossRefPubMed Li CC (1955) Population genetics. University of Chicago Press, Chicago Petukhova L, Shimomura Y, Wajid M, Gorroochurn P, Hodge SE, Christiano A (2009) The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis. Hum Hered 68:117–130CrossRefPubMed Romeo Enzalutamide G, Bianco M, Devoto M, Menozzi P, Mastella G, Giunta AM, Micalizzi C, Antonelli M, Battistini A, Santamaria F, Castello D, Marianelli A, Marchi AG, Manca A, Miano A (1985) Incidence in Italy, genetic heterogeneity, and segregation analysis of cystic fibrosis. Am J Hum Genet 37:338–349PubMed Ten Kate LP, Scheffer H, Cornel MC, Van Lookeren Campagne JG (1991) Consanguinity sans reproche. Hum Genet 86:295–296PubMed”
“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.