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What are autosomal dominant disorders?
Autosomal dominant disorder are manifested in the heterozygous state so at least one parent of an index case is usually affected.
Both males and females are affected and can transmit the condition.
Reduced penetrance:
some individuals inherit the mutant gene but our phenotypically normal.
This is referred as reduced penetrance.
Variability expressivity:
If a trait is seen in all individuals scaring the mutant gene but is expressed differently among the individuals the phenomena is called variable expressivity.
Loss of function mutations:
most mutation lead to reduced production of a gene product or give rise an inactive protein it is termed as loss of function mutation.
Gain of function Mutations:
In this type of mutation the protein product of the mutant allele acquires properties not normally associated with the wild type protein.
for example: Huntington disease
Autosomal Dominant Disorders:
NERVOUS:
Huntington disease
Neurofibromatosis
Myotonic dystrophy
Tuberous sclerosis
Urinary :
Polycystic kidney disease
Gastrointestinal :
Familial polyposis coli
Hematopoietic :
Hereditary spherocytosis.
Von willebrand disease
Skeletal Marfan syndrome
Ehlers Danlos Syndrome
Osteogenesis imperfecta
Achondroplasia
Metabolic:
Famlial hypercholesterolemia
Acute intermittent porphyria
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