tailieunhanh - Báo cáo sinh học: " Reconstructing CNV genotypes using segregation analysis: combining pedigree information with CNV assay"

Tuyển tập các báo cáo nghiên cứu về sinh học được đăng trên tạp chí sinh học quốc tế đề tài: Reconstructing CNV genotypes using segregation analysis: combining pedigree information with CNV assay | Henshall et al. Genetics Selection Evolution 2010 42 34 http content 42 1 34 GSE Ge n et i cs Selection Evolution RESEARCH Open Access Reconstructing CNV genotypes using segregation analysis combining pedigree information with CNV assay John M Henshall 1 Vicki A Whan2 Belinda J Norris2 Abstract Background Repeated blocks of genome sequence have been shown to be associated with genetic diversity and disease risk in humans and with phenotypic diversity in model organisms and domestic animals. Reliable tests are desirable to determine whether individuals are carriers of copy number variants associated with disease risk in humans and livestock or associated with economically important traits in livestock. In some cases copy number variants affect the phenotype through a dosage effect but in other cases allele combinations have non-additive effects. In the latter cases it has been difficult to develop tests because assays typically return an estimate of the sum of the copy number counts on the maternally and paternally inherited chromosome segments and this sum does not uniquely determine the allele configuration. In this study we show that there is an old solution to this new problem segregation analysis which has been used for many years to infer alleles in pedigreed populations. Methods Segregation analysis was used to estimate copy number alleles from assay data on simulated half-sib sheep populations. Copy number variation at the Agouti locus known to be responsible for the recessive selfcolour black phenotype was used as a model for the simulation and an appropriate penetrance function was derived. The precision with which carriers and non-carriers of the undesirable single copy allele could be identified was used to evaluate the method for various family sizes assay strategies and assay accuracies. Results Using relationship data and segregation analysis the probabilities of carrying the copy number alleles responsible for black or white fleece

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