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PubMedDate not supplied

A sampling algorithm for segregation analysis.

Methods for detecting Quantitative Trait Loci (QTL) without markers have generally used iterative peeling algorithms for determining genotype probabilities. These algorithms have considerable shortcomings in complex pedigrees. A Monte Carlo Markov chain (MCMC) method which samples the pedigree of the whole population jointly is described. Simultaneous sampling of the pedigree was achieved by sampling descent graphs using the Metropolis-Hastings algorithm. A descent graph describes the inheritance state of each allele and provides pedigrees guaranteed to be consistent with Mendelian sampling. Sampling descent graphs overcomes most, if not all, of the limitations incurred by iterative peeling algorithms. The algorithm was able to find the QTL in most of the simulated populations. However, when the QTL was not modeled or found then its effect was ascribed to the polygenic component. No QTL were detected when they were not simulated.

Algorithms↗
PubMedDate not supplied

Some probability models for ascertainment of families in segregation analysis.

The author suggests some probability models for the distribution of number of boys in a family and assesses the suitability of these models using previously published data. "Also, the correlation coefficient between the number of boys and girls in a family for the same data has been determined in the case of each model."

Biology↗
PubMed2003

Complex segregation analysis of body height, weight and BMI in pedigree data from Middle Dalmatia, Croatia.

It has recently been reported that the mode of inheritance of body height, weight and BMI in five ethnically and geographically different populations can be described in terms of a major gene (MG) model. Here, using the pedigree sample from the island populations of Middle Dalmatia, Croatia (1,312 observed individuals in 462 pedigrees), the evidence is presented that supports the above findings. By applying the usual transmission probability tests, the hypothesis has been accepted that a significant part of the variation of each one of those three basic morphological traits can be attributed to the effect of a putative large-effect gene. The effect of a putative MG is responsible for 39-50% of age and sex adjusted trait's variation and for 34-48% of the total (non age-adjusted) variation of height, weight and BMI.

Adolescent↗
PubMed1987

[Segregation analysis of familial polyposis coli].

The results of Mendelian analysis of the hereditary colon polyposis are presented, considering age influence on manifestation of the character and specificity of the data obtained. The possibility of pleiotropic monogenic control of the hereditary polyposis and primary colon cancer is checked up and confirmed.

Adenomatous Polyposis Coli↗
PubMed1988

[The genetics of breast cancer, population and familial research and segregation analysis].

The data on clinico-genealogy studies of 1046 probands with breast cancer and their relatives are presented. The nature of inheritance corresponded to the Mendelian model. As to other families, there is no strong evidence for the monogene model both with complete and incomplete penetrance of mutant homo- and heterozygotes. Penetrance of homozygotes was 7.9-30.5%, this being 2.0-7.3% for heterozygotes. The conclusion is drawn that it is necessary to consider the regularities of inheritance of breast cancer in the light of the multifactorial model.

Adult↗