Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
96 Cards in this Set
- Front
- Back
|
BEH
Types of Studies |
C
C C T A |
|
|
BEH
Trials |
1
2 3 4 |
|
|
BEH
Sensitivity |
True positive over total with diesase
Takes into account false negatives |
|
|
BEH
Specificity |
True negative over total without disease
Takes into account false positives |
|
|
BCM Genetics
Codominance |
Both alleles contribute to the phenotype of heterozygote
AB |
|
|
BCM Genetics
Variable Expressivity |
Phenotype varies among individuals with same genotype
Neurofibromatosis T1 |
|
|
BCM Genetcis
Incomplete Penetrance |
Not all individuals with a mutant genotype show the mutant genotype
|
|
|
BCM Genetics
Pleiotropy |
One gene contributes to multiple phenotypic effects
|
|
|
BCM Genetics
Imprinting |
Differences in gene expression depend on mutation in materna or paternal origin
|
|
|
BCM Genetcis
ANticipation |
Increased Severity or
Earlier Onset of disease in succeeding generations Hunnington's disease |
|
|
BCM Genetics
Loss of Heterozygosity |
pt inherits or develops a mutation in a tumor suppressor gene
completementary allele must be deleted/mutated before cancer develops |
|
|
BCM Genetics
Dominant negative mutation |
Exerts a dominant effect.
Heterozygote produces a nonfunctional altered protein that prevents the normal gene product from functioning |
|
|
BCM Genetics
Linkage Disequilibrium |
Tendency for alleles at 2 linked coci to occur togetehr more often than expected by chance
Population modifies this NOT in a small sample such as a family |
|
|
BCM Genetcis
Mosaicism |
Occurs when cells in body differe in genetic makeup due to postfertilization loss or change of genetic information during mitosis
|
|
|
BCM Genetics
Locus Heterogeneity |
Mutations at different loci can produce the same phenotype
Marfans syndrome |
|
|
BCM Genetics
Heteroplasmy |
Presense of both normal and mutated mtDNA results in variable expression
|
|
|
BCM Genetics
Uniparental Disomy |
Offspring recieves 2 copies of a chromosone from 1 parent and NO COPIES from other parent.
|
|
|
Conditions
Kartageners Syndrome |
AUTO REC
immotile cilia - dyenin S&S Respiratory - respiratory tract - sinusitis/bronchiectsis Reproductive - gametes, fallopians - infertility/dec fertility *situs inversus |
|
|
Conditions
Bronchiectasis |
refers to an irreversible airway dilation that involves the lung in either a focal or a diffuse manner and that classically has been categorized as cylindrical or tubular (the most common form), varicose, or cystic. (1)
irreversible airway dilation |
|
|
Conditions
Cheidak-HIgashi |
AUTO REC
mutation lysosomal trafficing regulator gene (LYST) microtubule sorting of endosomal proteins -> late multivesicular endosomes S&S Immune System - recurrent pyogenic infections - DEC phagocytosis Integumentary System - partial albinism Nervous System - peripheral neuropathy |
|
|
Conditions
Severe Comrpomised Immunodeficiency Disease (SCID) |
MULTIPLE CAUSES
AUTO REC adenosine deaminase def -> ATP dATP INC -> INH ribonucleotide reductase -> prevents DNA synth -> DEC lymphocyte count S&S Immune System - adaptive immune compromised |
|
|
Conditions
Lesch-Nyhan |
X LINK REC
HGPRTase absent -> elevated PRPP ->INC purine biosynth -> purine degradation –> overproduction of urate S&S Nervous System - Self Mutiliation Metabolic - High uric acid/Gout/Kidney Stones |
|
|
Conditions
I-Cell Disease |
AUTO REC
GNPTAB gene -> GLCNAc-1-phosphotrasferase defficiency -> @ GOLGI lysosomal enzyme mislabelling -> accumulation of glycoproteins and glygolipids S&S Inclusion Bodies! Integumentary System - coarse facial features Optical System - clouded corneas Skeletal System - restricted joint movement Metabolism - INC lysosomal enzyems |
|
|
Genetics - Point Mutations
Silent |
same AA ofteh base change in 3rd position of codon/tRNA wobble
|
|
|
Genetics - Point Mutations
Missense |
AA is changed but similar in structure
|
|
|
Genetics - Point Mutations
Nonsense |
early STOP codon
|
|
|
Genetics - Point Mutations
Frameshift |
misreading of ALL nucleotides following mutation
nonfunctional protein |
|
|
Conditions
Marfans Syndrome |
AUTO DOM
Fibrilin 1 gene - defect fibrillin S&S Skeletalmuscular System - arachnodactyly, pectus excavatum, tall with long extremities, hypermobile joints Cardiovascular system - mitral valve dysfunction, medial necrosis of aorta Optic System - subluxation of lens, cataracts |
|
|
Conditoins
Emphysema/COPD |
alpha anti trypsin deficiency
|
|
|
Conditions
Osteogenesis Imperfecte |
brittle bone disease
mutliple fracturs with minimal trauma blue sclera hearing loss dental imperfections |
|
|
Conditions
Ehlers-Danlos |
Integumentary System
hyperflexible skin tendency to bleed |
|
|
Conditions
Narcolepsy |
asdf
|
|
|
Condition
Sleep Terror Disorder |
asdf
|
|
|
Conditions
Hypophsophatemic Rickets |
asdf
|
|
|
Conditions
Mitochondrial Myopathies |
asdf
|
|
|
Conditions
Achondroplasia |
AUTO DOM
|
|
|
Conditions
Autosomal-dominant Polycystic Kidney Disease (ADPKD) |
AUTO DOM
|
|
|
Conditions
Familiar Adenomatous Polyposis |
AUTO DOM
|
|
|
Conditions
Famial Hypercholesterokemia |
AUTO DOM
|
|
|
Conditions
Hereditary Hemorrhagic Telangiectasia Osler-Weber-Rendu syndrome |
AUTO DOM
|
|
|
Conditons
Huntingtons Disease |
AUTO DOM
CAG |
|
|
Conditions
Prader-Willi Syndrome |
asdf
|
|
|
Conditions
Angelman's Syndrome |
asdf
|
|
|
Conditions
Multiple Endocrine Neoplasias (MEN) |
asdf
|
|
|
Conditions
Neurofibromatosis type 1 von Recklinghahusen's Disease |
asdf
|
|
|
Conditions
Neurofibromatosis type 2 |
asdf
|
|
|
Conditions
Tuberous Sclerosis |
asdf
|
|
|
Conditions
von Hippel-Lindau Disease |
asdf
|
|
|
Conditions
G6P Dehydrogenase Deficiency |
X LINK REC
|
|
|
Conditions
Albinism |
AUTO REC
|
|
|
Conditions
Autosomal-recessive Polycystic Kidney Disease (ARPKD) Infantile polycysic kidney disease/ |
AUTO REC
|
|
|
Conditions
Cystic Fibrosis |
AUTO REC
|
|
|
Conditions
Glycogen Storage Diseases |
AUTO REC
|
|
|
Conditions
Hemochromatosis |
AUTO REC
|
|
|
Conditions
Mucopolysaccharidoses |
AUTO REC
|
|
|
Conditions
Phenylketonuria |
AUTO REC
|
|
|
Conditions
Sickle Cell Anemia |
AUTO REC
|
|
|
Conditions
Sphingolipidoses |
AUTO REC
|
|
|
Conditions
Thalassemias |
AUTO REC
|
|
|
Conditions
Burton's Agammaglobulinemia |
X LINK REC
|
|
|
Conditions
Wiskott-Aldrich Syndrome |
X LINK REC
|
|
|
Conditions
Fabrys Disease |
X LINk REC
|
|
|
Conditions
Ocular Albinism |
X LINK REC
|
|
|
Conditions
Duchenne Muscular Dystrophy |
X LINK REC
|
|
|
Conditions
Beckers Muscular Dystrophy |
X LINK REC
|
|
|
Conditions
Hunters Syndrome |
X LINK REC
|
|
|
Conditions
Hemophilia A |
X LINK REC
|
|
|
Conditions
Hemophilia B |
X LINK REC
|
|
|
Conditions
Ornithine Transcarbamoylase Deficiency |
X LINK REC
|
|
|
Conditions
Fragile X Syndrome |
X LINK DOM
CGG trinucleotide repeat -> FMR1 gene methylation -> absence of FMRP -> overtranslation in dendrites S&S long face, large everted ears Nervous System - autism Reproductive System - macroorchidism Cardiovascular System - mitral valve prolapse |
|
|
Conditions
Friedrich's Ataxia |
GAA
|
|
|
Conditions
Myotonic Dystrophy |
CTG
|
|
|
Cranial Neves
I |
Olfactory
Forebrain/Prosencephalon NOT CONNECTED TO BRAINSTEM special sensory foramina in cribiform palate of ethoid bone |
|
|
Cranial Nerve
II |
Optic
Forebrain/Prosencephalon NOT CONNECTED TO BRAINSTEM special sensory optic canal |
|
|
Cranial Nerve
III |
Oculomotor
Midbrain/Mesencephalon somatic motor visceral motor superior orbital fissure |
|
|
Cranial Nerve
IV |
Trochlear
Midbrain/Mesencephalon somatic motor superior orbital fissure |
|
|
Cranial Nerve
V |
Trigeminal
Pons/Metencephalon somatic sensory somatic motor Ophthalmic - superior orbital fissure Maxillary - foramen rotundum Mandibular - foramen ovale |
|
|
Cranial Nerve
VI |
Abducens
Pons/Metencephalon Medulla/Mylencephalon somatic motor superior orbital fissure |
|
|
Cranial Nerve
VII |
Facial
Pons/Metencephalon Medulla/Mylencephalon somatic motor special sensory visceral motor internal acoustic meatus/facial canal/stylomastoid foramen |
|
|
Cranial Nerve
VIII |
Vestibulocochlear
Pons/Metencephalon Medulla/Mylencephalon special sensory internal acoustic meatus |
|
|
Cranial Nerve
IX |
Glossopharyngeal
Medulla/Mylencephalon somatic motor visceral motor visceral sensory special sensory somatic sensory jugular foramen |
|
|
Cranial Nerve
X |
Vagus
Medulla/Mylencephalon somatic motor visceral motor visceral sensory special sensory somatic sensory jugular foramen |
|
|
Cranial Nerve
XI |
Cranial Accessory
Spinal Cord Somatic Motor jugular foramen |
|
|
Cranial Nerve
XII |
Hypoglossal
Medulla/Mylencephalon Somatic Motor hypoglossal canal |
|
|
Cranial Nerve
Olfactory components |
special sensory - olfactory epithelium
foraminal in cribiform plate of ethmoid bone |
|
|
Cranial Nerves
Optic components |
special sensory - retina/ganglion cells
optic canal |
|
|
Cranial Nerves
Oculomotor components |
somatic motor - midbrain
visceral motor - pre: midbrain visceral motor - post: ciliary ganglion superior orbital fissure |
|
|
Cranial Nerves
Trochlear |
somatic motor - midbrain
superior orbital fissure |
|
|
Cranial Nerves
Trigeminal |
Ophthalmic V1 - superior orbital fissure
Maxillary V2 - foramen rotundum Mandibular V3 - foramen ovale somatic sensory - trigeminal ganglion somatic motor - pons |
|
|
Cranial Nerves
Abducent |
somatic motor - pons
superior orbital fissure |
|
|
Cranial Nerves
Facial |
somatic motor - pons
special sensory - geniculate ganglion visceral motor - pre: pons visceral motor - post:pterygopalatine ganglion/submandibular ganglion internal acoustic meatus/facial canal/stylomstoid foramen |
|
|
Cranial Nerves
Vestibulocochelar |
Vestibular
Cochlear special sensory - vestibular ganglion special sensory - spiral ganglion internal acoustic meatus |
|
|
Cranial Nerves
Glossopharyngeal |
somatic motor - medulla
visceral motor - pre: medulla visceral motor - post: otic ganglion special sensory - inferior ganglion somatic sensory - inferior ganglion jugular foramen |
|
|
Cranial Nerves
Vagus |
somatic motor - medulla
visceral motor - pre: medulla visceral motor - post: neurons in or on viscera visceral sensory - inferior ganglion special sensory - inferior ganglion somatic sensory - superior ganglion jugular foramen |
|
|
Cranial Nerves
Spinal accessory |
somatic motor - spinal cord
jugular foramen |
|
|
Cranial Nerves
Hypoglossal |
somatic motor - medulla
hypoglossal canal |
