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30 Cards in this Set
- Front
- Back
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what is the definition of a mendelian disorder
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single gene defects or mutations
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what are the four main types of mutations
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point
trinucleotide repeat frameshift three base deletion |
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what is point mutation
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subsitution of single nucleotide base with another resutls in the replacement of one amino acid with another or with a stop codon
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what are two exxamples of missense mutations
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sickle cell
hemophilia |
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what are two eampels of trinucleotide repeat mutations
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huntingtons
fragile X |
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what is an exampel of three base deletion
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cystic fibrosis
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what are the general characterisitis of autosomal domninant
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disease in heterozygous
not enzyme proteins structural proteins like collagen incomplete penetrance and expressivity |
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what are three examples of autosomal dominant that we talked about
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marfan's
huntingtons dneurofibromatosis |
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what are the major changes that occur with amrfans
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skeletal
cardiovascular including mitral valve prolapse and dilation of the root of the aorta to dissecting aneurysm eye changes |
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von recklinghausen's disease =
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neurofibromatosis
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what are signs of neurofibromatosis
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neurogenic tumors
neurofibromas bag of worms in velvety skin cafe au lait sports pigmented iris tumors |
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what are two other examples of autosomal dominant we talked about
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familial hypercholesterolemia
polycystic kidney |
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what are the generals of autosomal recessive
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parents not affected
early onset homozygous defective allele complete penetrance enzyme proteins affected |
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what are four examples of autosomal recessive
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sickle cell anemia
cystic fibrosis tay sachs phenyketonuria |
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in sickle clel anemia ___ is substituted for glutamic acid at the sixth position of the beta chain
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valine
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describe the pathogensis of sickle cell
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deoxygnation
hbs form polymer reversed with oxygenation episode dmaages RBC plasma membrane lifespan RBC reduces microvascular obstruction |
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what is the main problewm in cystic fibrosis
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viscous secretion of exocrine gland
blocks airways resulting in infections blocks pancreatic secretions causing malabsroption |
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in X linked disorders the female is ___ the male is ____
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heterozygous
hemizygous |
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classic hemophilia is caused by a reduces amoutn of factor ____
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8
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the x chromosome codes for ____ and ____
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9 and 8
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in the diagnosis of hemophilia... PT is and PTT is
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normal
abnormal |
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what are six examples of polygenic diseases
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DM
HTN gout shcizophrenia bipolar glaucoma |
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chromosla aberrations =
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cytogenetic disorders
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define monosomy
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deletion of a chromosome or part of a chromosome
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what are three examples of chromosomal aberrations
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trisomy 21
klinefelters turnor |
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what are some of the clinical features of down
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mental retardation
dpicanthal folds flat facial profile intestinal stenosis umbilical hernia predisposition to leukemia |
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what are maternal factors associated with SIDS
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less than 20
short intergestational intervals low socioeconomic status smoking drug abuse |
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what are infant factors associated with SIDS
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prematurity
low birth weight male product of multiple birth not first sibling SIDS in prior sibling |
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waht are the malignant tunors of childhood at 1 to 9 years of age
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leukemia
retinoblastoma neuroblastoma hepatobalastoma soft tissue sarcoma CNS tumor |
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what are the tumors 10 to 14
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hepatoblastoma
soft tissue sarcome osteognic sarcoma |
