monogeenistä

Monogeenistä is a Finnish term referring to a genetic condition caused by a mutation in a single gene. This type of inheritance pattern is distinct from polygenic inheritance, where multiple genes contribute to a trait or condition. Monogenic diseases are often passed down through families in predictable patterns, such as autosomal dominant, autosomal recessive, X-linked dominant, or X-linked recessive inheritance.

In autosomal dominant conditions, only one copy of the altered gene is needed to cause the disease. This means that an affected individual has a 50% chance of passing the gene to each of their children. Examples include Huntington's disease and Marfan syndrome.

Autosomal recessive conditions require two copies of the altered gene for the disease to manifest. Individuals with only one copy of the altered gene are carriers and typically do not show symptoms but can pass the gene to their offspring. If both parents are carriers, there is a 25% chance their child will inherit the condition. Cystic fibrosis and sickle cell anemia are common examples.

X-linked inheritance involves genes located on the X chromosome. X-linked dominant conditions affect males and females, though often more severely in males. X-linked recessive conditions are more common in males because they have only one X chromosome. If a mother is a carrier of an X-linked recessive gene, each son has a 50% chance of being affected. Duchenne muscular dystrophy and hemophilia are well-known X-linked recessive disorders. Understanding monogeenistä inheritance is crucial for genetic counseling, diagnosis, and family planning.