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HY Genetics DIT/FA

Day 10

QuestionAnswer
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