final Flashcards
how many ppl will get a genetic disease in their lifetime?
67% of pop
examples of diseases in which genetics are entirely causative?
CF, Down syndrome, sickle cell anemia
(single gene disorder or chromosomal disorder like aneuploidies)
genetics plays a major role in these diseases:
BRCA1 (30% CHANCE OF GETTING OVARIAN CONCER)
genetics plays a minor role in these diseases:
multifactorial models
spina bifida
genetic heterogeneity
different genetic mutations or variations can cause the same or similar phenotype or trait. In other words, there can be multiple different genetic causes for the same observable characteristic or disease
(diff varients / mutations at the same locus = same disease)
dynamic mutations
Dynamic mutations are genetic mutations that result from the expansion or contraction of repetitive DNA sequences within certain genes. These mutations can occur spontaneously or be inherited in an autosomal dominant pattern.
pyloric stenosis is an example of
a qualitative trait with a gender bias towards men (men are more likely to develop this due to a lower threshold for risk factors)
T or F: Duchenne muscular dystrophy is a multifactorial disease
FALSE it is entirely genetic
models are used to help understand disease occurrence in ?
quantitative and qualitative diseases
polygenic
purely genetic (multiple genes tho)
proband
an individual in a family or population who is the first person to be diagnosed with a particular genetic disorder or trait. The proband is typically the individual who seeks medical attention for symptoms related to the disorder or who is identified through genetic testing.
BRCA1 has incomplete _____
incomplete penetrance
linkage
tendency of genes to be inherited together because they are located very close together on the chromosome
distance in cM btw genes = the recomb rate (%)
cardiovascular and coronary heart disease are both?
multifactorial diseases
what is the leading cause of death worldwide
cardiovascular disease
how many independent mutations does it take for a normal human cell to become metastatic?
6
caretakers are associated with?
DNA repair
Most cancer is ____ and has predominantly ______ causes
sporadic
environmental
what is often the 2nd hit that causes cancer?
loss of heterozygosity (LOH)
what is the activating process involved in HER2 related breast cancers?
HER2 was over-expressed –> amplified
BRCA 1 and 2 are ?
tumour suppressor genes
what 4 mechanisms can transform protooncogenes into oncogenes?
- variation / activating mutation
- translocation into another gene
- amplification (over-expression)
- rearrangement (novel fusion)
what does CYP2D6 do?
it metabolizes inactive codeine into active morphine in the body
what is carbamazepine and what happens to ppl with HLA-B*1502 mutation who take this?
its an anti-epileptic drug
ppl with that mut could develop SJS/TEN
