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15 Cards in this Set

  • Front
  • Back
Single gene disorder
1 gene product=loss of function
-has clear cause & mech
Polygenic diseases
-lots of allels (genes)get together to make a pathogenic state
-mostly non genetic=inheritence doesn't play a big role
-inc risk
-varied symptoms & onset
Multifactorial disease
genetic + environment:
-genetic bkrnd
-occupational exposures
C-value paradox
size of genome varies among species and has no relationship to the # of genes
-is explained by noncoding regions of DNA
advantages of knowledge of the genome
-preventative lifestyle
-tailored drugs
-more drugs that are tolerated better
Types & percentages of conserved DNA
5%-codes for proteins
Mitochondrial DNA is 93% conserved
Conserved sequences
-protein binding sites:id functional DNA elements neededfor gene production & exp
-exons:coding regions of genes,susceptible to mutation=lethal
-functional protein domains: inc affinity for hormone binding sites ,when hor binds DNA sites are activated
Conserved protein domains
-zinc fingers
-epidermal growth factor
-Ca binding EF
How does length of genes affect susceptibility to mutation & how does genome org. it's material
-inc length=inc risk of mutation
-DNA packing seqs & nucleosome binding elements
Name the 4 types of non tandem repeats
noncoding repeats=1/2 genome
are in lots of diff locs:
SINES-ALU seq 11% of genome,1 mill copies
LINES-17% 500,000 copies
Transposons-3%code for transposase enzyme
Other types of conserved DNA
-permanently condensed
-inactive amt varies
satellite DNA:
-tandem repeats
-in centromeres
-5-170bp long
-AKA simple seq repeats
-in telomeres
-used to id bad genes n pedigrees b/c vary in length b/t people
Name characteristics of DNA protein interactions
-follows equilib laws
-indep seq for binding histones
-dep on seq to bind other proteins
-regulate rate of transcription/replication
-binding is regulated by protein conc & small effector molecules
Dynamics of chromatin
-histones are remodeled
-acetyl,methyl,& phosphoryl grps are added to Lys & Arg
-changes regulate xcription & replication rates
Upstream response elements
where regulatory TF's bind:
-HTH->for dev,mutation=synpolydactyly mut in HOX gene
-Leucine zipper->Ca affected genes=retinoblastoma=mut in RB1 gene for cell cycle,rare
-HLH->dimers modulate xscript rt. mut=saethre-chotzen synd mut in TWIST gene
-Zinc fingers->steroid hor sig transduction mut=
-BRCA1 codes for ZF is absent w/ inherited breast CA
-Wilms tumor 8% of childhood CA
-Rickets vit D receptor gene part of sterol recep family encodes for ZF
Ethics involved in human genome
-to TX or not
-gene engineering tx vs. warfare