BACKGROUND Stroke is a complex genetic disorder with a variable phenotype. Investigations of heritable factors in complex genetic disorders use pedigree and genetic techniques, which pose different ethical and methodological challenges than those routinely encountered in therapeutic research. Building consensus on acceptable research practices in this field is vital to the success of multicente...

A consensus map for sugi (Cryptomeria japonica) was constructed by integrating linkage data from two unrelated third-generation pedigrees, one derived from a full-sib cross and the other by self-pollination of F1 individuals. The progeny segregation data of the first pedigree were derived from cleaved amplified polymorphic sequences, microsatellites, restriction fragment length polymorphisms, a...

PURPOSE To investigate the genotype and phenotype of juvenile-onset open angle glaucoma (JOAG) in a Chinese family (PN pedigree). METHODS Each family member was comprehensively examined by an experienced ophthalmologist. The clinical characteristics of the family patients with JOAG were documented. Blood samples were obtained from 22 available participants from the PN pedigree. Linkage analys...

Objective: To study the phenotype and HOXD13 gene mutation of a big synpolydactyly (SPD) Pedigree in Henan Province of China. Methods: The SPD pedigree was taken as research subjects; 13 surviving patients were examined clinically; PCR was used to amplify HOXD13 gene first exon and PCR products were sequenced to detect mutations. Results: In the SPD pedigree, the proportion of sick men and wome...

Fabry disease (FD) is an X-linked lysosomal storage disease caused by α-galactosidase A deficiency; in contrast to other X-linked diseases, heterozygous females can be as affected as men. The construction and analysis of a family pedigree is a powerful tool to aid clinicians in diagnosis, establishment of inheritance pattern, and early detection of potentially affected relatives. The present st...

We conduct pedigree-based linkage and association analyses of simulated systolic blood pressure data in the nonascertained large Mexican American pedigrees provided by Genetic Analysis Workshop 18, focusing on observed sequence variants in MAP4 on chromosome 3. Because pedigrees are large and sequence data have been completed by imputation, it is feasible to conduct analysis for each pedigree s...

Average daily gain between birth and 30 d of age of 42,644 lambs of Swiss Black-Brown Mountain Sheep were used in this analysis. The influence of amount of pedigree information on computing time and on REML estimates of population parameters was investigated on a subset of 7,848 lambs. If all available pedigree information was used, 89.4% of the lambs had at least four complete generations of k...

Multilocus calculations, using all available information on all pedigree members, are important for linkage analysis. Exact calculation methods in linkage analysis are limited in either the number of loci or the number of pedigree members they can handle. In this article, we propose a Monte Carlo method for linkage analysis based on sequential imputation. Unlike exact methods, sequential imputa...

The open-pollinated (OP) family testing combines the simplest known progeny evaluation and quantitative genetics analyses as candidates' offspring are assumed to represent independent half-sib families. The accuracy of genetic parameter estimates is often questioned as the assumption of "half-sibling" in OP families may often be violated. We compared the pedigree- vs. marker-based genetic model...

Probability functions such as likelihoods and genotype probabilities play an important role in the analysis of genetic data. When genotype data are incomplete Markov chain Monte Carlo (MCMC) methods, such as the Gibbs sampler, can be used to sample genotypes at the marker and trait loci. The Markov chain that corresponds to the scalar Gibbs sampler may not work due to slow mixing. Further, the ...