The intricate mechanisms behind genetic disorders are reshaping how we understand human disease. Inborn errors of immunity (IEIs), a group of monogenic disorders, exemplify this complexity. These ...

Most populations have some degree of variation in their gene pools. By measuring the amount of genetic variation in a population, scientists can begin to make predictions about how genetic ...

This includes which allele (if either) is fixed; the allele and gene copy fixation times; the final frequencies of alleles, haplotypes, and genotypes; and the ancestral (generation 0) haplotypes ...

Late-onset Alzheimer's disease is a debilitating, progressive neurodegenerative disease that affects about 7 million ...

2005;50(3):184-188. For example, in a white population, the most common deleterious allelic variant in the CFTR gene is CFTR delta F508 allele, resulting in the absence of a single amino acid ...

The height of pea plants is controlled by a single gene which has two alleles: tall and short. The tall allele is dominant and is shown as T. The small allele is recessive and is shown as t.

A gene known as HbS was the center of a medical and evolutionary detective story that began in the middle 1940s in Africa. Doctors noticed that patients who had sickle cell anemia, a serious ...

multilocus inherited neoplasia allele syndrome; UANL, Universidad Autonoma de Nuevo León. After evaluation, genetic testing was offered to all participants. Negative patients were discharged to ...

This study aimed to investigate the association between the interleukin-1 beta (IL-1β) gene polymorphism (rs2853550) and the risk of rheumatoid arthritis (RA) in a sample of the Iraqi population. The ...