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Firstaid BiochemA


What is pleitropy one gene affects more than one phenotypic trait (e.g. PKU causes hair and skin changes as well as MR)
What is imprinting Phenotypic difference depending on whether gene is maternal or paternal in origin (prader-willi, angelman's)
What is anticipation severity worsens by generation
Which type of genes are concerning for loss of heterozygosity tumor supressor genes (not oncogenes) Rb, p53
What is a dominant negative mutation mutated protein product also prevents wild type from functioning
What is linkage disequilibrium alleles at two linked loci occur together more often than would be expected by chance, usually considered on a population scale
What is lyonization a type of mosaicism involving random X inactivation in females
What is heteroplasmy both normal and mutated mtDNA results in variable expression in mitochondrial inherited disease
What is uniparental disomy offspring gets 2 copies of chromosome from 1 parent and no copies from the other parent
When might uniparental disomy be suspected a person manifests a recessive condition when only one parent is a carrier
What is the prevalence of an x-linked recessive disease in each sex q in males, q^2 in females
What are hardy-weinburg assumptions no mutation at the locus, no selection for genotypes at the locus, completely random mating, no migration
What are causes of prader willi syndrome deletion of the normally active paternal allele on chr15, uniparental maternal disomy of chr15
What are causes of Angelman's syndrome deletion of normally active maternal allele on chr15, or uniparental paternal disomy of chr15
What are features of prader-willi MR, hyperphagia, obesity, hypogonasidm, hypotonia
What are features of Angelman's MR, seizures, ataxia, inappropriate laughter ("happy puppet")
What type of inheritance is associated with more severe and earlier presentation AR
How is hypophosphatemic rickets usually inherited x-linked dominant
What diseases show mitochondrial inheritance mitochondrial myopathies, leber's hereditary optic neuropathy (acute loss of central vision)
What causes achondroplasia Fibroblast growth factor cell-signalling defect; also associated w/advanced paternal age
What is autosomal-dominant polycystic kidney disease ALWAYS BILATERAL; flank pain, hematuria, and progressive renal fialure, 90% due to APKD1 mutation on chromosome 16 (infantile is recessive though)
What are associated features with polycystic kidney disease polycystic liver disease, berry aneurysm, mitral valve prolapse
What causes familial adyenomatous polyposis chromosome 5 APC gene delted (5 leters in polyp)
What causes familial hypercholesterolemia defective or absent LDL receptor; heterozygotes LDL>300, homozygote LDL>700!, causes severe atherosclerotic dz and tendon xanthomas, MI beore age 20 (!!!)
What is hereditary hemorrhagic telangiectasia also called osler-weber-rendu syndrome, causes telangiectasias, recurrent epistaxis, skin discoloration, and AVM
What is hereditary spherocytosis defects in ankrin or spectrin causes hemolytic anemia and increased MHCH, can cure w/splenectomy
What brain findings are associated with huntington's diesase decreased GABA, Ach in the brain, atrophy of the caudate,
Where is the Huntington gene located chromosome 4
What is MEN multiple endocrine neoplasia, tumors in pancreas, parathyroid, pituitary, thyroid, and adrenals; sometimes associated with ret gene
What causes marfans fibrillin mutation--->arachnodactyli, hyperextensive joints, pectus excavatum, tall/long extremities, cystic medial aortic necrosis, floppy mitral valve, subluxation of lenses
What are findings in NF1 café au lait, neural tumors, lisch noduels in the iris, skeletal disorders, optic pathway gliomas, pheochromocytoma, tumor susceptibility, Long arm of chromosome 17, =von recklinghousen
What are findings in NF2 bliateral acoustic neruoma, juvenile cataracts, NF2 gene mutation on chr22
What is tuberous sclerosis facial lesions (adnoma sebaceum), hypopigmented ash leaf spots on skin, cortical and retinal hamartomas, seizures, MR, renal cysts/renal angiomyolipomas, cardiac rhabdomyomas, increased astrocytoma incidence
What are genetic features of tuberous sclerosis incomplete penetrance and variable presentation
What are features of von Hippel-Lindau disease causes hemangioblastomas, renal cell carcinoma, other tumors due to VHL tumor supressor deletion on chromosome 3p.
What is the cause of VHL VHL loss -->constitutively active HIF transcription factor-->angiogenic growth factor activation
What infections are particularly problematic in CF patients pseudomonas and S aureus
Why do male CF patients experience infertility bilateral congenital absence of vas deferens
How is CF dxed increased concentration fo CL- ions in sweat
What is treatment of CF N-ac to loosen mucous plugging (cleaves disulfide bonds w/in mucous glycoproteins)
What diseases are x-linked recessive bruton's agammaglobulinemia, wiskott-aldrich, fabry's, G6PD deficiency, ocular albinism, lesch-mnyhan, duchenne's beckers, Hemophilia A/B, Hunter's syndrome
What causes Duchenne's x-linked frameshift mutation-->dystrophin absent-->accelerated muscle breakdown (gower's maneuver, pseudohypertrophy of calf muscles, cardiac myopathy)
What is becker's less severe than Duchenne's, also X-linked dystrophin problem
Why is duchenne likely to come from a spontaneous mutation longest known human gene-->increased spontaneous mutation rates
What causes fragile X trinucleotide repeat expansion disorder; once adequately expanded, FMR1 gene is methylated so that it is not expressed, 2nd most common cause of MR after Down syndrome
What are fragile x findings long face/large jaw, MR, enlarged testes, large everted ears, autism, MVP
What are trinucleotide repeat expansion disorders huntington's (CAG); myotonic dystrophy (CTG); fragile X (CGG), and friedreich's ataxia (GAA)
In whom are anticipatory trirepeat expansion disorders expanded women
What are most common heart problems in Down syndrome septum-primum type ASD
What results of a pregnancy quad screen might indicate down syndrome decreased alpha-fetoprotein; increased beta-hCG, decreased estriol, and increased inhibin A, increased nuchal translucency
What is trisomy 18 Edwards' syndrome, severe MR, rocker bottom feet, micrognathia, low ears, clenched hands, congenital heart disease, death usually <1 year
What is Patau's syndrome trisomy 13, severe MR, rocker bottom feet, microphthalmia, microcephaly, cleft lip/palate, holoprosencephaly, polydactyly, congenital heart disease, death usually within 1 year of birth
What chromosomes undergo robertsonian translocation 13, 14, 15, 21, and 22
What is a robertsonian translocation chromosomes w/centromeres near the ends (acrocentric) fuse at the centromere and short arms are lost
What are chromosomal inversions rearrangements where segment of a chromsome is reversed end to end, may decrease fertility
What type of inversion involves the centromere Doesn't involve the centromere
What is cri-du-chat syndrome microdeltion on short arm of chr5, causes microcephaly, oderate to severe MR, high pitched crying/mewing, epicanthal folds, cardiac abnormalities
What is william's syndrome microdeletion of the long arm of chr7 containing the elastin gene, causes elfin facies, MR, hypercalcemia/inc vit D sensitivity, well developed verbalskills, friendliness to strangers, cardio problems
What are 22q11 deletion syndromes Digeorge and velocardiofacial syndromes, caused by abnormal development of the 3rd and 4th branchial pouches
What are the symptoms of 22q11 deltions Cleft palate, Abnormal facies, Thymic aplasia-->t-cell deficiency, Cardiac defects, Hypocalcemia 2ndary to parathyroid aplasia CATCH-22
Created by: 2101155



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