Researchers from the TEDDY study highlight how specific genetic and environmental factors may drive early autoimmunity linked to type 1 diabetes in children, emphasizing distinct patterns for ...

Genetic bottlenecks therefore lead to an increase in homozygosity, which takes place when identical haplotypes are inherited from each parent leading to a host of inherited problems such as pain, ...

The analysis showed that Thorin had “high genetic homozygosity,” which indicates inbreeding in the lineage’s recent past. It ...

Eight founder strains are being intercrossed, and their offspring are being inbred to homozygosity, essentially producing recombinant inbred lines containing three to seven alleles 20. Because of ...

Diagnostic tools include standard ontologies for describing dysmorphology and traits, pedigree analysis, disease locus mapping by linkage or homozygosity, karyotyping, genome sequencing and ...

Alpha-1-antitrypsin (a1AT) deficiency is caused by homozygosity for the a1AT mutant Z gene and occurs in 1 in 2,000 births. The Z mutation confers an abnormal conformation on the protein, resulting in ...

The highest prevalence of C282Y homozygosity is 1:250, seen in populations of North European ancestry. Low circulating hepcidin due to decreased hepatic expression of hepcidin resulting from ...

“The population of Thorin had spent 50 millennia without exchanging a single gene with the classical Neanderthal populations.” The analysis showed that Thorin had “high genetic homozygosity,” which ...

Genetic polymorphisms have been described in the case of several CYP isoenzymes. The best explored example of this phenomenon is the CYP2C19 polymorphism. In this table the most frequent alleles ...