Title: Monogenic Disorders (Single Abnormal Gene) — University of Leicester
Headings: Monogenic Disorders (Single Abnormal Gene)
Monogenic Disorders (Single Abnormal Gene)
Autosomal Dominant Inheritance
Autosomal Recessive Inheritance
X-Linked Recessive Inheritance
X-Linked Dominant Inheritance
Mitochondrial Inheritance
Imprinted Genes

Content: Autosomal Dominant Inheritance
Autosomal Recessive Inheritance
X-Linked Recessive Inheritance
X-Linked Dominant Inheritance
Mitochondrial Inheritance
Imprinted Genes
Autosomal Dominant Inheritance
Monogenic autosomal dominant disorders occur through the inheritance of a single copy of a defective gene. Because these conditions are carried on the autosomes, males and females are equally affected. Because this inheritance pattern is dominant, the chance of it being passed on during pregnancy is 50% for each pregnancy. If the faulty gene is inherited, it will result in an affected individual. Autosomal dominant diseases include many of the serious and more common genetic disorders of adults like, such as Huntington's Chorea, polysystic kidney disease and Tuberous Sclerosis. However, penetrance may not be complete in some individuals and this results in a milder form of the condition. Sometimes, the mutation occurs in sperm or eggs and in these cases, the autosomal dominant condition arises with no preceding history. Autosomal Recessive Inheritance
Monogenic autosomal recessive disorders occur when two of the defectives genes are inherited. Usually in these cases the parents are carriers of the mutated gene. The risk of an affected child being born is 25% for each pregnancy.