Flashcards in Biochemistry Deck (255)
NF1 vs. NF2 chromosome
NF1=17 (von Recklinghausen); NF2 = 22
von Hippel Lindau disease chromosome
del of VHL gene on ch 3p. AD disorder w/ cereballar hemangioblastomas, clear cell renal carcinomas, pheochromocytomas
Genetics of CF
Del of Phe508 on chromosome 7 (most common lucky number?)
ATP-using Cl- secretion in lungs and GI and Cl- absorption in sweat glands
X-linked recessive disorders
Be Wise, Fool's GOLD Heeds HOpe.
Bruton agammaglobulinemia, Wiskott-Aldrich, Fabry, G6PD, Ocular albinism, Lesch-Nyhan, Duchenne, Hunters syndrome, Hemophilias, Ornithine transcarbamylase deficiency
Duchenne defect and presentation
X-linked frameshift -> truncated dystrophin (DMD gene). Anchors muscle fibers (actin to transmembrane proteins); pelvic girdle weakness moves sup. pseudohypertrophy. < 5 yr onset; dilated cardiomyopathy
X-linked POINT mutation. onset in adolescence or early adulthood
Myotonic type 1 muscular dystrophy defect and presentation
CTG repeat expansion of DMPK gene; myotonia, m. wasting, frontal balding, cataracts, testicular astrophy, arrhythmia.
Fragile X defect and presentation
X-linked FMR1 gene w/ CGG (n=200) expansion leads to hypermethylation. Xtra large testes, LONG face with large jaw, large everted ears, autism. Short X -> Long face, large jaw, large testes, large ears.
Trinucleotide repeat expansion diseases
X-Gf's First Aid Helped Ace My Test; C_G (Community group!) Fragile X = cGg. Friedrich ataxia = gAa. HD = cAg. Myotonic dystrophy = cTg
1st and 2nd trimester Screen for Down's is?
1st: Increased nuchal translucency, hypo plastic nasal bone, serum PAPP-A down, free Beta-hcg up
2nd: quad screen; L alpha, Up beta, L estriol, Up inhibin
E for election = chromosome 18. Severe ID, rocker-bottom feet, micrognathia, low-set ears. Death within 1 year. 1TM - low PAPP-A and free Beta. 2TM - L alpha, low Beta, low estriol, low A. Overriding fingers (2>3, 5>4)
P for puberty = chromsome 13. Severe ID, rocker-bottom, micropthalmia, microcephaly, celft liP/Palate, HOLOPROSencephaly, polydactyly. 1TM - Up Beta, low PAPP-A, increased nuchal translucency
Nonreciprocal of 13, 14, 15, 21, 22 where two q arms fuse, losing p arms. Balanced ok. Unbalanced palms.
Microdeletion of short arm of chromosome 5. (A little high 5 for the cat.) Microcephaly, mod-sec ID, mewing, epicentral folds, VSD
Microdeletion on 7q (# Ivies - 1 = 7; Little ivy). Elfin facies, ID, hypercalcemia, good verbals, very friendly
Cleft palate, Abnl facies, Thymic aplasia (T-cell def), Cardiac defects, Hypocalcemia (No C-cells!). 22q11. Abberant dvpt of branchial 3rd and 4th. diGeorge - thymic, parathyroid, . cardiac. Velocardiofacial - palate, facial, and cardiac
Fat soluble vitamins
Fat soluble - A, D, E, K. Very dependent on gut and pancreas for absorption. More likely to go toxic. KADE skywalker is fat.
Water soluble vitamins
B1,2,3,5,6,7,9,12.C. B deficiencies -> dermatitis, glossitis, diarrhea.
Excess Vit A?
Acute (n/v/vertigo), long (alopecia, HLD, HEPATO, PSEUDOTUMOR), teratogenic (microcephaly, cleft palate, cardiac)
Deficient Vit A?
Night blindness, dry, xerosis cutis, alopecia, corneal degen, immunosuppression, squamous metaplasia.
Vit A F(x)?
Antioxidant, visual pigment, DIFFerentiation, tx for measles.
BIG 3 (alpha-ketoglutarate dehydrogenase, alpha-ketoacid dehydrogenase, pyruvate dehydrogenase) + transketolase (for HMP shunt)
Deficient Vit B1?
Impaired glucose breakdown -> highly aerobic tissue damage.
Wernicke-Korsakoff - confusion, opthalmoplegia, ataxia
Dry beriberi - polyneuritis, symmetrical muscle wasting
Wet beribi - dilated cardiomyopathy, edema
Measured in lab by dec. transketolase activity in RBC's
Riboflavin. Part of flavins FAD and FMN req. for redox reactions.
Cheilosis and corneal vascularization
B3 f(x) and name?
Niacin. Derived from tryptophan. Makes NAD+. Impairs hepatic production of VLDL -> lower LDL. (Higher HDL)
Facial flushing, hyperglycemia, hyperuricemia
glossitis, PELLAGRA - diarrhea, dementia, dermatits. Etios - hartnup disease, malignant carcinoid, INH