Modes of inheritance Flashcards
What does mitochondrial DNA code for
15 proteins
rRNA
tRNA
What is a dominant autosomal
Characteristic is dominant if it manifests in heterozygote
What is responsible for the colour of someone’s eyes
OCA-2
Controls the amount of melanin in melanocytes
What are the symptoms of huntington’s disease
Difficulty concentrating, depression, stumbling, involuntary jerking, problems swallowing
What is the mutation of huntingtons disease
Repeat of CAG on chromosome
Causes proteins to aggregate resulting in cell death
Glutamate is affected
What are the result of dominant autosomal disorders
Gain of function
Dominant negative effect
Insufficient protein made
Risk factor of autosomal recessive disorder
Consanguineous marriage
What are the symptoms of cystic fibrosis
Defective chloride ion channel
Impaired airway defence
Respiratory infections
Digestive issues
What is the mutation of cystic fibrosis
Cystic Fibrosis Transmembrane Conductance regulator gene of chromosome 7
What is the symptoms of haemophilia
Severe bleeds
Females don’t really display symptoms
Why are some sex linked disorders milder to females
One of the X genes in females is randomly silenced
What is the mutation of X-linked hypophosphatemia
PHEX gene mutation
What are the symptoms of X-linked hypophosphatemia
Overproduction of FGF21 which inhibits kidney phosphate resorption
Kidneys cannot retain phosphate
Vitamin D resistance rickets
Skeleton becomes fractured
Examples of Y-linked disorders
Retinitis Pigmentosa
Mutations in RPY gene
Cells of retina produce a defective protein
How are mitochondrial inherited disorders inherited
Inherited from mother
