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30 Cards in this Set
- Front
- Back
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disease prevalance (H-W)
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p2 + 2pq + q2 = 1
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allele prevalance (H-W)
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p + q = 1
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heterzygote prevalance (H-W)
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2pq
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which allele is defective in Prader-Willi?
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deletion of normally active paternal allele - mental retardation, obesity, hypogonadism, hypotonia
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which allele is defective in Angelman's syndrome?
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deletion of normally active maternal allele - mental retardation, seizures, ataxia, inappropiate laughter (happy puppet)
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mode of inheritance: adult PCKD
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AD (APKD 1 chromosome 16) associated with polycistic liver disease, BERRY ANEURYSMS, mitral prolapse. Juvenile is AR
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Mode of inheritance: Familial hypercholesterolemia
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AD (absent/defective LDL receptor)
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Mode of inheritance: marfan's syndrome
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AD (fibrillin gene mutation) skeletal abnormalities, CV (cytic medial necrosis of aorta --> aorta incompetence and dissecting aortic aneurysms. Floppy mitral valve. Subluxation of lenses.
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Mode of inheritance: Neurofibromatosis type 1
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AD (17q) café-au-lait, neural tumors, lisch nodules (pigmented iris hemartomas). Skeletal disorders, optic gliomas, pheochromocytomas
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Mode of inheritance: neurofibromatosis type 2
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AD (NF2 chromosome 22) bilateral acoustic neuroma, juvenile cataracts.
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Mode of inheritance: Tuberous sclerosis
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AD- facial lesions, hypopigmented "ash leaf spots", cortical and retinal hamartomas, seizures, mental retardation, renal cysts and angiomyolipmas, cardiac rhabdomyomas, increas incidence of astrocytomas, incomplete penetrance.
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Mode of inheritance: von Hippel-Lindau disease
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AD- (deletion of VHL (tumor supressor) on 3p) hemangiooblastomas of retina/cerebellum/medulla- half develop multiple bilateral renal cell carcinomas and other tumors. 3 words- chrom 3
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Mode of inheritance: Huntington's
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AD- huntingtin chrom 4 CAG repeat. Depression, pregressive dementia, choreiform movements, caudate atrophy, decreased GABA and Ach in brain.
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Mode of inheritance: familial adenomatous polyposis
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AD- (del APC on 5) colon covered with adenomatous polyps after puberty.
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Mode of inheritance: hereditary spherocytosis
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AD- spheroid erythrocytes, hemolytic anemia, increase MCHC. Splenectomy is curative.
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Mode of inheritance: Achondroplasia
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AD- defect in Fibroblast growth factor receptor 3--> dwarfism, short limbs, head and trunk normal size. Associated with advanced paternal age
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Mode of inheritance: Cystic fibrosis
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AR (CFTR chrom 7 (common del of Phe 508)) most common lethal genetic disease in caucasians
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what is the CFTR channel function?
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secretes Cl- in lungs and GI tract and reabsorbs Cl- from sweat.
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CF treatment (non antibiotic or physical)
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N-acetylcystein loosens mucous plugs-
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X-linked recessive disorders
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Be Wise, Fool's GOLD Heeds False Hope: Bruton's agammaglobulinemia, wiskott-aldrich, fragile X, G6PD, Ocular albanism, Lesch-nyhan, Duchenne's, Hemophilia A,B, Fabry's, Hunter's
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Describe the defect and clnicial findings in Duchenne's MD
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frame shift --> deletion of dystrophin gene --> accelerated muscle breakdown. Onset before 5, Gower's maneuver. Diagnose MDs by increase CPK and muscle biopsy
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Describe the defect in Becker's muscular dystrophy
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mutated dystrphin gene less severe than duchenne's
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Describe the defect and findings of Fragile X syndrome:
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X-linked defect affecting the methylation and expression of the FMR1 gene (CGC repeat disorder). Chromosomal breakage --> 2nd most common cause of genetic mental retardation (down's)- macro-orchidism, long face with large jaw, everted ears and autism
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list 4 diseases with trinucleotide repeat expansion
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Huntington's, myotonic dystrophy, Friedreich's ataxia, fragile X
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mnemonic for trisomy ages:
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Down's 21 Drinking age, Edwards 18 election age, Patau 13 puberty
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what are the signs of downs from prenatal screening:
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decrease alpha-fetoprotein, increase beta-HCG and nuchal transluceny
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what are the common congenital heart defects in Downs
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septum primum- type ASD due to endocardial cushion defect
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what are the hand findings in the trisomies
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downs- simian crease, edwards- clenched hands, pataus- polydactyly
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defect and findings in Cri-du-chat syndrome
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deletion of 5p- microcephaly, severe mental retardation, high-pitched crying, epicanthal folds, cardiac abn.
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what are the findings in 22q11 syndrome
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Cleft palate, abnormal facies, thymic aplasia-->T-cell deficiency, Cardiac defects, Hypocalcemia secondary to parathyroid aplasia, microdeletion at 22q11. CATCH-22
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