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CONTENTSMOLECULAR BIOCHEMISTRY .........................13Chromatin Structure ___________________________________ 14Heterochromatin ______________________________________ 15Euchromatiin _________________________________________ 15DNA Methylation ______________________________________ 15Histone Methylation ___________________________________16Histone Acetylation ___________________________________16Nucleotides __________________________________________16High Yield Points ______________________________________16High Yield Points ______________________________________ 17De novo Pyrimidine & Purine synthesis __________________18Orotic aciduria ________________________________________ 19Adenosine deamine deficiency _________________________20Lesch_Nyhan Syndrome _______________________________20DNA Replication ______________________________________ 21Points to remember ___________________________________23Mutations in DNA _____________________________________24Start and stop codons _________________________________26High yield points ______________________________________26Types of RNA _________________________________________27Introns vs exons _______________________________________27Protein synthesis ______________________________________28Points to Remember ___________________________________29

CELLULAR BIOCHEMISTRY ...............................30Cell types ____________________________________________ 31Cell cycle phases _____________________________________ 31Peroxisome ___________________________________________32Microtubule __________________________________________33Ciliary defect _________________________________________34Cilia structure _________________________________________34Immunohistochemical stains for intermediate filaments __35

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Collagen _____________________________________________35High yield points ______________________________________37Clinical correlation ____________________________________37High yield points ______________________________________38Ehlers-Danlos syndrome _______________________________39

LABORATORYTECHNIQUE ...............................40Gene expression modifications _________________________ 41Blotting techniques ___________________________________ 41

GENETICS .................................................................42Modes of inheritance __________________________________43Autosomal Dominant Disorders _________________________43Autosomal recessive Disease __________________________43X-linked Recessive Disorders ___________________________44Mitochondrial inheritance diseases _____________________44Chromosome 15 Diseases ______________________________45Metabolic disorders ___________________________________45Angelman Syndrome __________________________________46Prader Willi vs Angelman ______________________________47Important Diseases ____________________________________48Neurofibromatosis ____________________________________48Tuberous sclerosis ____________________________________48Cystic Fibrosis ________________________________________49Duchenne Muscular Dystrophy _________________________50High yield points ______________________________________50Trinucleotide repeat expansion disease _________________ 51Myotonic type 1 _______________________________________ 51Fragile X Syndrome ___________________________________52Down Syndrome ______________________________________53Edwards Syndrome ___________________________________54PATAU Syndrome _____________________________________54DiGeorge Syndrome ___________________________________56Cri-du-chat syndrome _________________________________56

NUTRITION ..............................................................57Vitamins _____________________________________________58Fat soluble vitamins ___________________________________58

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Water soluble vitamins ________________________________58Antioxidant vitamins ___________________________________59Vitamin A _____________________________________________59Vitamin D____________________________________________ 60Vitamin E _____________________________________________61Vitamin K _____________________________________________61Vitamin B-complex ____________________________________62Thiamine(B1) __________________________________________62Riboflavin(B2) _________________________________________63Niacin(B3) ____________________________________________64Biotin ________________________________________________65Pyridoxine(B6) ________________________________________65Pantothemic acid(B5) __________________________________65Folic acid ____________________________________________ 66Cobalamin(B12) ______________________________________ 66Vitamin C _____________________________________________67Kwashiorkar _________________________________________ 68MArasmus ___________________________________________ 69High yield points _____________________________________ 69

ENZYMES ..................................................................70Enzymes kinetics: Competitive vs non-competitive inhibition 71Metabolism Sites ______________________________________ 71Rate-determining enzymes of metabolic processes ______72PROCESS_____________________________________________72ENZYME _____________________________________________72Glycolysis ____________________________________________72Phosphofructokinase-1 (PFK-1) _________________________72Gluconeogenesis _____________________________________72Fructose-1,6-bisphosphatase __________________________72TCA cycle ____________________________________________72Isocitrate dehydrogenase ______________________________72Glycogenesis _________________________________________72Glycogen synthase ____________________________________72Glycogenolysis _______________________________________72Glycogen phosphorylase ______________________________72

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HMP shunt ___________________________________________72Glucose-6-phosphate dehydrogenase (G6PD) ___________72De novo pyrimidine ____________________________________72synthesis _____________________________________________72Carbamoyl phosphate synthetase II _____________________72De novo purine _______________________________________72synthesis _____________________________________________72Glutamine-phosphoribosylpyrophosphate_______________72(PRPP) amidotransferase _______________________________72Urea cycle ____________________________________________72Carbamoyl phosphate synthetase I _____________________72Fatty acid synthesis ___________________________________72Acetyl-CoA carboxylase (ACC) __________________________72Fatty acid oxidation ____________________________________72Carnitine acyltransferase I _____________________________72Ketogenesis __________________________________________72HMG-CoA synthase ___________________________________72Cholesterol synthesis __________________________________72HMG-CoA reductase __________________________________72Enzymes: competitive inhibitors ________________________73The Enzymes That Are Active In Phosphorylated State ____73

CARBOHYDRATES ................................................74Glycolysis enzymes ___________________________________75Citric acid cycle compounds ___________________________75G Protein-coupled receptor ____________________________76Insulin-independent glucose uptake ____________________76Pyruvate dehydrogenase complex ______________________77High yield points ______________________________________77G6PD: oxident drugs inducing hemolytic anemia _________78Pyruvate metabolism __________________________________78Electron transport inhibitors ____________________________79High yield points ______________________________________79

AMINO ACIDS .........................................................80Essential amino acids __________________________________81

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Basic amino acids _____________________________________82High yield points ______________________________________82Glucogenic amino acids _______________________________83High yield points ______________________________________83High yield points ______________________________________84Phenylketonuria: enzyme deificiency ____________________85Urea Cycle ___________________________________________85Phenylketonuria _____________________________________ 86Maternal PKU ________________________________________ 86Homocystinuria _______________________________________87Maple syrup urine disease ____________________________ 88Cystinuria ___________________________________________ 88

STORAGE DISEASES .............................................89Glycogen storage diseases ___________________________ 90Anderson vs Cori’s disease _____________________________ 91Cori disease __________________________________________92Mcardle disease ______________________________________92Von-Gierke disease____________________________________92Tay-Sachs disease ____________________________________93Niemann-Pick Disease _________________________________94Lysosomal storage disease ____________________________94Hurler syndrome ______________________________________95Hunter syndrome _____________________________________95

LIPIDS .........................................................................96Fatty acid metabolism _________________________________97LDL Vs HDL ___________________________________________97Specialised products of cholesterol ____________________ 98BUN:creatinine elevation causes ______________________ 98Apolipoprotein ________________________________________99

Sites of oxidation of Fatty Acids ...................100Sites of metabolic pathway .............................101Rate limiting enzymes ......................................102

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MISCELLANEOUS ............................................... 103Carbon monoxide: electron transport chain target _______104Serum protein electrophoresis ________________________104BUN:creatinine elevation:causes _______________________105X-Linked Dominant disorders _________________________105Non-gap acidosis:causes _____________________________106Anion gap causes ____________________________________106Metabolic acidosis:causes ____________________________107Points to remember __________________________________107

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