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35 Cards in this Set
- Front
- Back
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drugs that inhibit microtubles
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griseofulvin (anti-fungal esp nail), taxanes (anti-ca), colchicine (acute gout), -bendazoles (antihelminthic), vincristine/vinblastine (anti-ca)
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3 drugs to treat testicular cancer
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Eradicate Ball Cancer
Etoposide, Bleomycin, Cisplatin |
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3 drugs to treat breast cancer
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trastuzumab = AB against HER-2
Tamoxifen = risk of endometrial ca. (help w/ osteoporosis) Raloxifene = no risk of endometrial ca |
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Imatinib
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against philadelphia chrom t(9,22) via CML
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Von Recklinghausen's disease
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NF-1
AD |
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Osler-Weber-Rendu syndrome
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Hereditary hemorrhagic telangiectasia
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Codominance
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Neither 2 alleles are dominant.
ex - blood groups |
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variable expression
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nature and severity of phenotype varying from pt to pt.
ex- NF-1, |
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Incomplete penetrance
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not all pt w/ mutant genotype show mutant phenotype
ex - tuberous sclerosis |
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pleiotrophy
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1 gene mute = range of effects
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Imprinting
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diff in phenotype depending on mutation origin via from mom or dad.
ex- prader-willi (paternal) & angelman's syndrome (maternal) |
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Prader-Willi syndrome
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paternal imprinting = mental retard, hyperphagia, obesity, hypogonadism, hypotonia
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Angelman's syndrome
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maternal imprinting = mental retard, seizures, ataxia, inappropriate laughter.
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Anticipation
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severity of disease worsens or the age of onset of disease is earlier in the succeeding generations.
ex - huntingtion's |
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Loss of heterozygosity
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pt inherits or develop mutation in TSG. NOT true of oncogenes
ex - RB, P53 |
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Linkage disequilibrium
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tendency for certain alleles at 2 linked loci to occur together more often then expected. population genetics
ex - HLA |
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Mosaicism
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postfertilization loss of genetic info during mitosis.
can be germ-line mosaic > produce disease that is not carried by parent's somatic cells. |
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Locus heterogeneity
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mutations at diff loci can produce same phenotype.
ex- marfan's, MEN 2B, homocystinuria (all cause marfanoid habitus) |
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Heteroplasmy
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presence of both normal and muted mtDNA = variable expression in mitochrondrial inherited disease
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uniparental disomy
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2 copies of chrom from one parent
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nondisjuction
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failure for chromosomes to separate
ex- 95% of Down's via ^ maternal age. |
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Robertsonian translocation
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4% of Down's. when 2 long arms of 2 acrocentric chromosomes fuse and 2 short arms are lost.
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Cri-du-chat syndrome
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congenital microdeletion of short arm of chrom 5.
microcephaly, mod-severe mental retard, high-pitched crying, epicantal folds, VSD's. |
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Williams syndrome
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"elfin" facies. microdeletion of chrom 7.
mental retard, hypercalcemai (^ sensitivity to vit D), extreme friendliness, cardio probs. |
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Thiamine
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B1, thiamine pyrophosphate (TPP) > pyruvate dehydrogenase, a-ketoglutarate dehydrogenase, transketolase, Branched chain AA. think impaired glucose breakdown.
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Riboflavin
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B2, FADH & FAD.
cheilosis |
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Niacin
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B3, NAD. derived from trptophan.
pellagra (Hartnup disease via decrease tryptophan absorb). ^ cause flushing |
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pyridoxine
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B6. pyridoxal phosphate, transamination via ALT and AST, heme synth.. siderblastic anemia.
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biotin
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carboxylation enzymes via transfer CO2 groups
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ornithine transcarbamoylase
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X-linked. body can't eliminate ammonia (urea cycle)
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Arginine derivative
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Creatine, urea, NO
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Albinism
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tyrosinase deficiency
** lack of neural crest cell migration ** AR but ocular albinism is X-linked |
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Homocystinuria
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mental retard, osteoporosis, tall stature, kyphosis, lens dislocation (down and in) and ahrosclerosis > DD is marfan's.
cystathionine synthase def or B12 or B6 def |
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Metachromatic leukodystrophy
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arylsulfatase A def via lysosomal storage disease
centeral and peripheral demyelination = ataxia and dementa |
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erythema infectiosum
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5th disease or "slapped cheek". parvovirus = ssDNA
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