LECTURE VI Flashcards
CHECK ON LEANRING
SNPs can lead to?
polymorphism deletion insertion translocation -chromosomal -balanced/unbalanced -homologous crossing over
T/F, polymorphisms can have no effect at all?
true
this type of SNP is the result of a terminal deletion of the short arm of chromosome 5
cri-du-chat syndrome
these medical conditions are the result of having cri-du-chat syndrome?
microencephaly
cardiac defects
hypotonia
severe mental retardation
this type of SNP is when you have the insertion of nucleotides?
chromosomal insertion
what are the medical conditions that can result from a chromosomal insertion?
huntington disease myotonic dystrophy fragile x syndrome friedreich's ataxia spinocerebellular ataxia Charcot-marie-tooth disease (duplication of chromosome 17)
what are the effects of SNP resultant change?
linked SNP outside of gene?
SNP within regulatory region?
SNP within coding region of gene?
it depends on where the SNP is found
no effect
modify (expression)
change AA sequence
what are the three types of approaches therapeutic development?
human genetics based approach
cardiac oncology approach
traditional bottom up approach
this type of approach studies the inheritable human disease, analysis, than drug development?
human genetics based approach
this type of approach takes into account CV complications with targeted cancer therapy, analysis, discovery leading to drug design
cardio-oncology approach
this type of approach takes into account the biochemical identification of novel signaling pathway, analysis, drug development and then results based evidence
traditional bottom up approach
what type of selected mechanism of allelic action and disease is this?
Waardenburg syndrome results from PAX3 mutation, DNA binding proteins important in regulating embryonic development?
loss of function
what type of selected mechanism of allelic action and disease is this?
Charcot marie tooth disease results from deletions in the PMP22 overexpression via duplication
gain of function
what type of selected mechanism of allelic action and disease is this?
Kennedy disease results from CAG triplet addition of the androgen receptor. Mutant protein misfolds and interacts improperly
protein alteration
what type of selected mechanism of allelic action and disease is this?
retinoblastoma is inherited as recessive allele. A mutation to the second, normal allele resulting in tumor formation
dominant effects of recessive allele
results from PAX3 mutation, DNA binding proteins important in regulating embryonic development?
Waardenburg syndrome