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15 Cards in this Set
- Front
- Back
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Single gene disorder
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1 gene product=loss of function
-has clear cause & mech |
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Polygenic diseases
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-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 |
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Multifactorial disease
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genetic + environment:
-genetic bkrnd -nutrition -occupational exposures |
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C-value paradox
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size of genome varies among species and has no relationship to the # of genes
-is explained by noncoding regions of DNA |
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advantages of knowledge of the genome
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-preventative lifestyle
-tailored drugs -more drugs that are tolerated better |
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Types & percentages of conserved DNA
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5%-codes for proteins
45%-transposons 44%-nonconserved 6%-heterochromatin Mitochondrial DNA is 93% conserved |
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Conserved sequences
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-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 |
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Conserved protein domains
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-zinc fingers
-cadherins -epidermal growth factor -IG's -Ca binding EF |
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How does length of genes affect susceptibility to mutation & how does genome org. it's material
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-inc length=inc risk of mutation
-DNA packing seqs & nucleosome binding elements |
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Name the 4 types of non tandem repeats
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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 LTRs-transpose,200,000 Transposons-3%code for transposase enzyme |
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Other types of conserved DNA
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hererochromatin:
-6% -permanently condensed -inactive amt varies satellite DNA: -tandem repeats -in centromeres -5-170bp long minisatellites: -AKA simple seq repeats -in telomeres -9-64bp -used to id bad genes n pedigrees b/c vary in length b/t people |
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Name characteristics of DNA protein interactions
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-reversible
-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 |
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Dynamics of chromatin
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-histones are remodeled
-acetyl,methyl,& phosphoryl grps are added to Lys & Arg -changes regulate xcription & replication rates |
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Upstream response elements
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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 |
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Ethics involved in human genome
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-to TX or not
-privacy -gene engineering tx vs. warfare |
