The relationship between arantitrypsin deficiency (arATD) and the HLA antigen system was studied in 32 liver transplant recipients. Despite previous reports of an association of HLA antigen DRJ with homozygosity for arA T ZZ, no such association was seen in this population of arATD homozygous ZZpatients with advanced hepatic disease. Thus, the reported association of HLA class II antigens and h...

AIMS To examine the age of onset of insulin dependent diabetes mellitus (IDDM) in children with Down's syndrome compared with non-trisomic individuals, and to assess whether differences might be related to disomic homozygosity at the autoimmune polyglandular disease type 1 (APECED) gene locus. METHODS Children with Down's syndrome and IDDM were identified through the Down's syndrome associati...

A severely affected child born to consanguineous parents is interpreted as being a homozygote for the dominantly inherited piebald trait. The striking phenotypic difference between the parents and the child implies intermediate inheritance of this condition, and the family also illustrates that consanguinity should not always be taken to indicate genetic heterogeneity and recessive inheritance.

pericentric inversions of chromosome 9 are among the most frequent chromosomal rearrangement in human. a few cytogeneticists consider inversions of chromosome 9 as a normal variant. however, many reports in the recent literature link pericentric inversions of chromosome 9 with infertility, recurrent abortions, and a number of other abnormal conditions. we report a case of homozygosity pericentr...

Abstract Homozygosity mapping is a powerful method for identifying mutations in patients with recessive conditions, especially consanguineous families or isolated populations. Historically, it has been used conjunction genotypes from highly polymorphic markers, such as DNA microsatellites common SNPs. Traditional software performs rather poorly data Whole Exome Sequencing (WES) and Genome (WGS)...

It is argued that there are at least two alleles at the achondroplasia locus: one responsible for classic achondroplasia and one responsible for hypochondroplasia. Homozygosity for the achondroplasia gene produces a lethal skeletal dysplasia; homozygosity for hypochondroplasia has not been described. We report here a child considered to be a genetic compound for the achondroplasia and hypochond...

LTHOUGH close inbreeding does divide a population up into lines, members A of which are in general very similar-wRIGHT claims there was never any difficulty in telling to which of his 23 lines of inbred guinea pigs any individual guinea pig belonged-it has often been observed that some characters in some lines become more variable with inbreeding. The characters for which this has been found to...

HLA data from the A and B loci for 22 populations were compared with the neutrality expectations from Ewens' sampling theory. In 25 of 44 cases, there was significantly less homozygosity than expected. Although a number of factors can affect homozygosity in this manner, upon close examination only symmetrical balancing selection appears to be consistent with these data.