Autosomaalse

Autosomaalse, in a genetics context, refers to the autosomes—the chromosomes that are not involved in determining sex. In humans, the genome includes 22 pairs of autosomes plus 1 pair of sex chromosomes (X and Y), for a total of 46 chromosomes. Genes located on autosomes are inherited according to Mendelian principles and can influence a wide range of traits and diseases, regardless of whether an individual is male or female.

Autosomal inheritance is commonly described by two main patterns: autosomal dominant and autosomal recessive. In autosomal dominant conditions, a single pathogenic allele is sufficient to increase disease risk, and affected individuals often have an affected parent, though new mutations can occur. In autosomal recessive conditions, two pathogenic alleles—one inherited from each parent—are usually required for the disease to manifest; carriers are typically asymptomatic. Examples of autosomal dominant conditions include Huntington disease and Marfan syndrome, while cystic fibrosis and sickle cell disease are classic autosomal recessive disorders.

Genetic variation on autosomes can arise through missense, nonsense, frameshift, or splice-site mutations and may display variability in penetrance and expressivity. Some autosomal conditions result from de novo mutations, while others are inherited across generations. Genetic testing, carrier screening, and prenatal testing commonly target autosomal genes to assess risk, diagnose conditions, or guide family planning.