Inheritance of disease Flashcards
Alport’s syndrome (hereditary nephritis)
X linked recessive
Type IV collagen alpha 5 chain
Pyruvate Kinase Deficiency
Autosomal Recessive (mostly)
G6PD def
X-linked recessive
Sickle cell disease
Autosomal recessive
Wilson’s disease
Autosomal recessive
Haemochromatosis
Autosomal recessive
Alpha 1 antitrypsin deficiency
Autosomal dominant
Adult PCKD
Autosomal Dominant
PKD1 on chromosome 16 (encoding polycystin-1)
Reticular dysgenesis
autosomal recessive
Haemophilia
X-linked recessive
What is the transmission of disease in X-linked recessive conditions?
heterozygous female to male child
NO male to male
Each male child of a heterozygous female carrier has a 50% chance of being affected whilst each female child of a heterozygous female carrier has a 50% chance of being a carrier.
Shwachman Diamond Syndrome
autosomal recessive
neutropenia
Hereditary spherocytosis
autosomal DOMINANT
spectrin mutation
