Autosoomne

Autosoomne is a term used in genetics to describe traits, diseases, and inheritance patterns linked to autosomes—the non-sex chromosomes. In humans, there are 22 pairs of autosomes in addition to the sex chromosomes (X and Y). The concept is used to distinguish autosomal inheritance from sex-linked inheritance, which involves the sex chromosomes.

Autosomal traits can follow several Mendelian patterns. Autosomal dominant conditions require only one copy of a mutated autosomal gene to influence phenotype, and they typically appear in multiple generations with affected individuals of both sexes. Autosomal recessive conditions require two copies of the mutant gene, often appearing when two carrier parents have an affected child; both sexes are equally at risk.

Common autosomal dominant examples include Huntington disease, Marfan syndrome, and von Hippel-Lindau disease. Common autosomal recessive examples include cystic fibrosis, phenylketonuria, and sickle cell disease. Some autosomal conditions show variable expressivity or incomplete penetrance, meaning symptoms and severity can vary among individuals with the same mutation.

Autosoomne is central to clinical genetics, enabling carrier testing, diagnostic sequencing, and family risk assessment. In research, mapping autosomal loci helps identify disease genes and understand population variation, contributing to improved diagnosis and personalized approaches to treatment and counseling.

See also: Autosomes, sex chromosomes, Mendelian inheritance, genetic testing.