Modes of Inheritance Flashcards
What causes human genetic disorders?
Missing or abnormal genes
What are the three types of genetic disorders?
Single-gene
Chromosomal
Complex
What is a dominant autosomal disorder?
Single gene/allele disease or train
Disease passed down to offspring with multiple generations affected
Child has 50% of being affected
Affect males and females equally
Give an example of dominant autosomal disorders
Huntington’s disease
Abnormal intracellular Huntington protein aggregate gains a pathological function and it toxic to neutrons resulting in cell death
What are the 4 types of Osteogenesis imperfects?
I- insufficient quantities of collagen
II, III, IV: abnormal protein has an altered structure and interferes with the function of the normal protein
What are main features of dominant autosomal disorders?
Gain of function
Dominant negative effect
Insufficient
What is a recessive autosomal disorder?
Can have carriers Two copies of genes to have disease Tends to be loss of function Parents and children often unaffected Horizontal pedigree pattern 1 in 4 chance Males and females equally affected
Give an example of a recessive autosomal disorder?
Cystic fibrosis
What is a X-linked recessive disorder?
Affects mainly males
Females can be carriers
Parents and children commonly unaffected
What is an example of a X-linked recessive disorder?
Haemophilia
Fabry’s disease (female carriers have subtle features of the disease)
What is a a X-linked dominant disorder?
All daughters and no sons of an affecter father are affecter
Condition often milder and more variable in females than males
What is an example of a X-linked dominant disorder?
Hypophosphatemia
What is a Y-linked disorder?
Only in males
All sons of an affected father affected
Vertical pedigree pattern
What is an example of Y-linked disorder?
Retinitis Pigmentosa
What is a mitochondria disorder?
Maternally inherited
All children of affected women may be affected
Variable within family
