monogênica

Monogênica refers to genetic traits or disorders that are caused by a mutation in a single gene. These conditions follow predictable patterns of inheritance, often described by Mendelian genetics. The inheritance can be autosomal dominant, autosomal recessive, X-linked dominant, or X-linked recessive, depending on the location of the gene and whether one or two copies of the altered gene are needed to express the trait or disease.

In autosomal dominant inheritance, only one copy of the mutated gene is sufficient to cause the condition. The affected individual has a 50% chance of passing the mutation to each child. Autosomal recessive conditions require two copies of the mutated gene, one from each parent, for the individual to be affected. Carriers have one copy of the mutation and are typically unaffected but can pass it on. X-linked inheritance patterns differ based on the sex of the individual and the location of the gene on the X chromosome. These patterns can lead to different frequencies of the condition in males and females.

Examples of monogênica conditions include cystic fibrosis (autosomal recessive), Huntington's disease (autosomal dominant), and hemophilia (X-linked recessive). Understanding the genetic basis of monogênica traits is crucial for genetic counseling, diagnosis, and the development of targeted therapies. While many common diseases are polygenic, meaning they are influenced by multiple genes and environmental factors, monogênica disorders provide clear examples of the direct impact of single gene alterations on an organism's phenotype.