Genetics introduction Flashcards
What is variable expression?
The same faulty gene causing different effects/ clinical presentaiton
What is incomplete penetrance?
If a mutation (pathogenic variant) does not always cause disease in every person then it is incomplete
What is complete penetrance?
When a gene (pathogenic variant) causes disease in every person that inherits it
What is the ‘knights move’ a feature of?
x linked recessive inheritance
What is genetic anticipation?
An increase in the number of trinucleotide repeats in a gene. There is increasing severity and earlier age of onset in successive generations
Describe mitochondrial inheritance
Inherited from the mother, all children inherited it but to variable extents. The syndromes often affect the muscle, brain and eyes
What is the inheritance pattern of APKD?
Autosomal dominant (adult polycystic kidney disease)
What is the inheritance pattern of neurofibromatosis type 1?
Autosomal dominant
What is the inheritance pattern of Huntington disease?
Autosomal dominant
What is the inheritance pattern of cystic fibrosis?
Autosomal recessive
What is the inheritance pattern of phenylketonuria?
Autosomal recessive
What is the inheritance pattern of Spinal muscular atrophy?
Autosomal recessive
What is the inheritance pattern of Wilson disease?
Autosomal recessive
What is the inheritance pattern of Tay-sachs disease?
Autosomal recessive
What is the inheritance pattern of Vitamin D resistant rickets?
X linked dominant
