Genetic diseases Flashcards
What is a unifactorial disease
Defect in a single gene gives rise to disease phenotype (point mutations, insertions, deletions…)
Copper toxicosis is an example of what pattern of inheritance
autosomal recessive
What is usually the most detrimental type of genetic defect
frame shift
Pattern of inheritance depends on what 3 things
- Chromosome involved 2. Whether other genes may fully or partially complement the defect 3.Whether defect requires environmental input to see phenotype
Hyperkalemic periodic paralysis (HYPP) is an example of what pattern of inheritance
Autosomal dominant
What does a circle with a dot on the inside represent on a pedigree
Hterozygous X-linked disease
what does a nonsense mutation do
encodes a stop codon
What does a missense mutation do
encode a different amino acid
What is synteny
Conservation of gene groupings and organization on the chromosome of different species
What is autosomal dominant inheritance
requires a single allele to cause phenotype
If you see a filled in/dark circle on a pedigree, what does it represent
Affected female
What is autosomal recessive inheritance
requires individual be homozygous for defective allele to see phenotype
What is penetrance
Portion of individuals heterozygous for a given dominant allele or homozygous for a given recessive allele which expresses phenotype
what is a genetic disease
Heritable genetic alteration from wild type. Decreased viability
An expectation of a change in phenotype from one generation to the next
Anticipation
