UNLABELLED We have developed an integrated laboratory information system that allows the flexible handling of pedigree, phenotype and genotype information. Specifically, it includes client applications for an integrated data import from TaqMan typing files, Mendel checking, data export, handling of pedigree and phenotype information and analysis features. AVAILABILITY The SQL source code, sou...

We describe an extended pedigree in which second cousins are affected with cystic fibrosis (CF). Since the degree of relationship of the affected subjects is 1/32, common descent of one CF mutation was expected when the DNA laboratory undertook mutation analysis. Mutation testing showed that each CF mutation was introduced into the family by random mating and not by descent through a common anc...

K HEREDITARY, developmental, posterior polar cataract has been encountered in a North Country family and its descendants over five generations. It shows two unique features: progression and anticipation. Although several types of hereditary cataract have already been fully reported in the literature, only one satisfactory pedigree relating to posterior polar cataract has previously been recorde...

For geneticists, an assessment of the likelihood of a particular woman developing breast cancer, given her pedigree, is a necessary but not sufficient prerequisite for the provision of advice about her management. While a variety of methods of risk assessment have been proposed over the last ten years, based on data from a variety of sources, geneticists should only feel comfortable using metho...

In a large pedigree of Caribbean origin with adult polycystic kidney disease, linkage has been established to the 3'HVR probe on chromosome 16. Although there are five different fathers in this pedigree, only one of whom was available for DNA analysis, the polymorphic nature of 3'HVR has enabled gene tracking to be carried out. The same allele cosegregates with the disease in every affected fam...

In Korea, Korea Proven Bulls (KPN) program has been well-developed. Breeding and evaluation of cows are also an essential factor to increase earnings genetic gain. This study aimed evaluate the accuracy cow breeding value by using three methods (Pedigree index (PI), Pedigree-BLUP (PBLUP), Genomic-BLUP (GBLUP)). The reference population (n=16,971) was used estimate values for 481 females as a te...