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HY Genetics DIT/FA
Day 10
| Question | Answer |
|---|---|
| Which inheritance defect?: Ragged, red m fibers seen on biopsy. | Mitochondrial |
| Which inheritance defect?: Leber's hereditary optic neuropathy | Mitochondrial |
| Which inheritance defect? Leigh syndrome (subactue sclerosing encephalopathy) | Mitochondrial |
| Hypotonia, poor feeding, almond shaped eyes, downward turned mouth. Paternal deletion of chromosome 15. What type of genetic phenomenon is this? | Prader Willi. Imprinting (maternal deletion of chromo 15 results in different diseased called Angelman's) |
| What is the treatment for Prader Willi? | Limit access to food. Tx with GH if they have short stature. |
| What autosomal dominant disease fits the following statement? A/w floppy mitral valve, dissecting aortic aneurysm, berry aneurysm | Marfan's |
| What autosomal dominant disease fits the following statement? A/w mitral valve prolpase, liver disease, and berry aneurysms | Autosomal Dominant Polycystic Kidney Disease |
| What autosomal dominant disease fits the following statement? Neural tumors and pigmented iris hamartomas | Neurofibromatosis type 1 |
| What autosomal dominant disease fits the following statement? Very strong assoc'n with colon cancer. Which mutation is assoc'd? | FAP (assoc'd with APC mutation) |
| What autosomal dominant disease fits the following statement? MI before age 20 | Familial hypercholesterolemia (part of differential in young man who drops dead; also think hypertrophic cardiomyopathy) |
| What autosomal dominant disease fits the following statement? Hemangioblastomas of retina/cerebellum/medulla. | von Hippel Lindau syndrome |
| What autosomal dominant disease fits the following statement? Increased MCHC, hemolytic anemia. What is the treatment? | Hereditary spherocytosis. Tx is splenectomy. |
| What autosomal dominant disease fits the following statement? Bilateral acoustic neuromas | Neurofibromatosis type 2 |
| What autosomal dominant disease fits the following statement? Facial lesions, seizure d/o, cancer risk | Tuberous sclerosis |
| What autosomal dominant disease fits the following statement? Caudate atrophy, dementia | Huntington's |
| What autosomal dominant disease fits the following statement? Cystic medial necrosis of the aorta | Marfan's |
| What autosomal dominant disease fits the following statement? Defect of fibroblast growth factor 3 (FGF 3) | Achondroplasia (dwarfism) |
| How does a defect in the transmembrane chloride channel cause dry mucus in CF patients? | Where Cl goes, Na follows. Where Na goes, water follows. So without NaCl, there is no water to follow and make mucus liquid-y so it can clear out organisms and debris. |
| Which lysosomal storage disease is assoc'd with renal failure? What is the tx? | Fabry's disease; tx=dialysis |
| What are the only 2 X-linked recessive lysosomal storage diseases? What is the method of inheritance of the others? | Fabry's and Hunter's (X marks the spot for a treasure Hunter). All others are autosomal recessive. |
| What is the MC lysosomal storage disease? | Gaucher's disease |
| Which lysosomal storage diseases are assoc'd with an early death (usually by age 3)? | Tay Sachs, Neimann-Pick, and Krabbe's disease |
| Which lysosomal storage disease is a demyelinating disease? | Metachromatic leukodystrophy (AR); leuko=white=myelin |
| How might corneal clouding and mental retardation distinguish between the mucopolysaccharidoses? | *Hurler's: +corneal clouding, +MR. *Hunter's: -corneal clouding, +MR. *Scheie's: +corneal clouding, -MR. *I-cell: +corneal clouding, +/-MR |
| Which lysosomal storage disease is characterized by the following enzyme deficiency?: alpha L ioduronidase | Hurler's and Scheie's (milder form of Hurler's) |
| Which lysosomal storage disease is characterized by the following enzyme deficiency?: Iduronate sulfatase | Hunter's |
| Which lysosomal storage disease is characterized by the following enzyme deficiency?: arylsulfatase A | Metachromatic leukodystrophy |
| Which lysosomal storage disease is characterized by the following enzyme deficiency?: alpha-galactosidase A | Fabry's disease |
| Which lysosomal storage disease is characterized by the following enzyme deficiency?: galactocerebrosidase (-->galactocerebroside accumulation) | Krabbe's disease |
| Which lysosomal storage disease is characterized by the following enzyme deficiency?: beta-glucocerebroside (-->glucocerebroside accumulation) | Gaucher's disease |
| Which lysosomal storage disease is characterized by the following enzyme deficiency?: Hexosaminadase | Tay Sach's |
| Which lysosomal storage disease is characterized by the following enzyme deficiency?: Sphingomyelinase (-->sphingomyelin accumulation) | Niemann-Pick disease (no man picks his nose with his sphinger) |
| Lysosomal storage disease characterized by an accumulation of GM2 gangliosides. | Tay Sachs |
| Lysosomal storage diseases characterized by an accumulation of dermatin sulfate. | Hurler's, Hunter's, Scheie's (all the mucopolysaccharidoses) |
| Which lysosomal storage diseases are common among Ashkenazi Jews? | Tay Sachs, Niemann-Pick, some forms of Gaucher's |
| Which lysosomal storage disease has a characteristic "crinkled paper" cytoplasm? | Gaucher's |
| What is the differential for a cherry red spot on the macula? | Tay Sachs, Niemann-Pick (cherry picking), central retinal a occlusion |
| No mannose-6-P to target lysosomal proteins--> secretion of proteins out of cell instead of into lysosomes; death by age 8 | I cell disease |
| Corneal clouding, coarse facies, hepatosplenomegaly, skeletal abnormalities, restricted jaw movement, +/- MR. | I cell disease |
| Upon examination of a pedigree, you note that both males and females are affected with a disease in every generation. What type of genetic disease is this? | AD |
| Multiple fractures; easily confused with child abuse | Osteogenesis imperfecta (type I collagen defect) |
| Cafe-au-lait spots and soft tissue growths | Neurofibromatosis type 1 |
| Macroorchidism and autism | Fragile X |
| Recurrent pulmonary infections and steatorrhea | CF |
| Endocardial cushion defects are common. Alzheimer's b/f 40yo. | Down syndrome |
| Excess fibro-fatty tissue deposit amongst muscle? | DMD |
| What test is used to diagnose cystic fibrosis (give exact cutoff)? What gene is mutated? | Sweat chloride test (>60mEq/L). CFTR gene is mutated. |
| Give the sample and probe: Southern blot | Sample: DNA Probe: DNA |
| Give the sample and probe: Northern blot | Sample: RNA Probe: DNA |
| Give the sample and probe: Western blot | Sample: Protein Probe: Antibody |
| What does "knock out" mean in terms of gene expression modifications? | Removing a gene |
| What does "knock in" mean in terms of gene expression and modifications? | Inserting a gene |
| Neither of 2 alleles is dominant | Codominance |
| Nature and severity of phenotype vary from 1 individual to another | Variable expression |
| Not all individuals with a mutant genotype show the mutant phenotype | Incomplete penetrance |
| Differences in phenotype depend on whether mutation is paternal or maternal in origin | Imprinting |
| Severity of disease worsens or age of onset of disease is earlier in succeeding generations | Anticipation |
| Occurs when cells of body have different makeup | Mosaicism |
| Pedigree: 50% of children affected. Many generations, both male and female. | AD |
| Pedigree: disease is only in 1 generation, and no other generations are affected | AR |
| What is the one disease in which fluoroquinolones may be used in children, despite their well-known toxicities? | Cystic fibrosis; may need fluoroquinolones to kill Pseudomonas |
| In addition to fluoroquinolones, what other therapies should be administered to CF patients? | Pancreatic enzyme replacement and ADEK vitamin supplementation. |
| What are the X-linked immunodeficiencies? | Wiskott aldrich, Bruton's, Chronic granulomatous disease (WBC); hyper IgM may also be X-linked |
| What does the FMR1 gene code for? Where is it found? | FMRP cytoplasmic protein. Found in the brain and testes. |
| Where does the FMRP cytoplasmic protein operate? What f'n is it involved in? | Goes to the axons and dendrites where it is involved in mRNA translocation. |
| What is the MCC of mental retardation overall? | Fetal alcohol syndrome |
| What is the MCC of genetic mental retardation? What is the 2nd MCC of genetic mental retardation? | #1 is Down syndrome. #2 is Fragile X syndrome |
| In addition to the muscular dystrophies, what other muscular disorders have an elevated CPK level? | Polymyositis and myositis. |
| Does polymyalgia rheumatica have an increased CPK level? | No! It is a JOINT disorder (hence, "rheumatica", not a muscular disorder) |
| Why is Becker's MD less severe than Duchenne's MD? | Beckers is only a mutation of the dystrophin gene, whereas Duchenne's is a complete deletion of the dystrophin gene. |
| Patient complains of difficulty releasing his grip on doorknobs. He has cataracts, frontal balding, and gonadal atrophy on physical exam. What does he have? | Duchenne's Muscular dystrophy. Myotonia is abnormally slow relaxation of mm; classic symptoms are difficulty releasing one's grip after a handshake or letting go of a door. |
| Which supplementation in CF helps treat diarrhea and weight loss? | Pancreatic enzyme supplementation (diarrhea and weight loss are caused by malabsorption secondary to pancreatic insufficiency) |
| Neurofibromas are tumors of ____ cells and are derived from the ____. | Schwann; neural crest |
| Which autosomal trisomy may present with Meckel's diverticulum (malrotation of the gut)? | Edward's syndrome (Trisomy 18) |
| Which autosomal trisomy may present with omphalocoele and pyloric stenosis? | Patau's syndrome (Trisomy 13) |
| What genetic principle can result in differing severity of disease among patients in the same family with mitochondrial disease? | Heteroplasmy (the more severe the patient's presentation, the higher proportion of defective mitchondrial genomes they have in their cells) |
| MCC of death in Marfan's patients after infancy. | Aortic dissection (cystic medial degeneration of aorta predisposes) |
Created by:
sarah3148
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