BIO-GEN INNO-VISION 2012 Dr A Ponnusamy Kumar ONE Minute Paper on Lesch-Nyhan

Syndrome (LNS)

What is the Syndrome is likely to the patient is suffering from? Lesch-Nyhan Syndrme (LNS).
What is the enzyme deficient or hyperactivity in LNS?. Hypoxanthine Guanine Phosphoribosyl Transferase (HGPRT) deficiency/ Inability to salvage hypoxanthine or guanine .

What type of Inheritance causes LNS?. X-linked recessive rare genetic disorder that affects males. What are the compounds will accumulate in LNS? Is LNS is early onset or late onset ? Late onset within 1-3 years. List a few signs & Symptoms of LNS?

Phospho Ribosyl Pyro Phosphate (PRPP) + Decrease IMP+GMP/ Uric acid Crystals / Monosodium Urate Cystals / Tophi.

Severe neurologic disease, characterized by self-mutilating behaviors such as lip and finger biting and/or head banging. Up to 20 times the uric acid in the urine than in normal individuals. Uric acid crystals form in the urine. Untreated condition results in death within the first year due to kidney failure. Often presents as pain and swelling confined to one joint. The big toe joint is commonly affected. The problems partly arise because neutrophils release lysosomal enzymes as a result of damage to the phagosome membrane by ingested crystals:

What is the treatment option for patients suffering from LNS?. 4/2/12 Allopurinol, a competitive inhibitor of xanthine oxidase.
Colchicine acts to reduce the attack by inhibiting lysosome

A ONE Minute Paper on Heme Metabolism What is Heme? What are the precursors of heme biosynthesis? Name the organs in which heme is synthesized. What is the rate-limiting enzyme in heme biosynthesis? What is the allosteric inhibitor of heme biosynthesis? What is the coenzyme required for -ALA synthase.

Name the sites of heme biosynthesis in the cells. What are the enzymes inhibited by Lead? What is the fate of heme? Name the heme degradation product / pigment excreted in the Urine? Name the bile pigment excreted n the feces / stools. Which bilirubin is water souble? What is direct bilirubin? What is indirect bilirubin? What is the qualitative test by which bilirubin will be identified? Where the conjugation of bilirubin occurs? What is the enzyme catalyses the conjugation process? Name the different types of jaundice. Which enzyme levels are low in neonatal jaundice? Name a few causes of Obsructive jauncdice. Which type of bilirubin will be elevated in the hemolytic jaundice. In obstructve jaundice which type of bilirubin will be elevated in the serum? What enzyme defeciency / hyperactivity causes Dubin-Johnson Syndrome (DJS) What type of bilirubin increases in in DJS? What is defect in Crigler Najjar Syndrome (CNS)? What is the causes of sideroblastic anemia? What is the defect in X-linked Sideroblatic Anemia? 4/2/12 What enzyme is deficient in Porphyria Cutanea Tarda (PCT)?. What enzyme is absent in Congenetal Erythropoietic Porphyria?.

A ONE Minute Paper on Severe Combined Immuno Deficiency (SCID) Syndrome

What is the Syndrome is likely to the patient is suffering from? What are the enzyme deficient or hyperactivity in SCID? Adenosine Deaminase (ADA), What type of Inheritance causes SCID? Autosomal recessive disorder due to deficiency Of ADA. What are the compounds will accumulate in SCID? Which type of cells are affected in SCID? How dATP accumulation leads to immuno deficiency? Is SCID is early onset or late onset ? List a few signs & Symptoms of SCID? What is the treatment option for patients suffering from SCID? Bone marrow transplantation. Impairment in which biosynthetic / degradation pathyway leads to SCID?

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A ONE Min Paper on Alkaptonuria (AKU)

What is the Syndrome is likely to the patient is suffering from? What are the enzyme deficient or hyperactivity in AKU? What type of Inheritance causes AKU? What are the compounds will accumulate in AKU? Which type of cells / organs are affected in AKU? How enzyme deficiency leads to AKU? Is AKU is early onset or late onset ? List a few signs & Symptoms of AKU? What organs are affected by AKU? What are the complications of AKU? What is the treatment option for patients suffering from AKU?

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Impairment in which biosynthetic / degradation pathyway

A ONE Min Paper on Albinism

What is the Syndrome is likely to the patient is suffering from? What are the enzyme deficient or hyperactivity in Albinism? What type of Inheritance causes Albinism? What are the compounds will accumulate in Albinism? Which type of cells / organs are affected in Albinism? How enzyme deficiency leads to Albinism? Is AKU is early onset or late onset ? List a few signs & Symptoms of Albinism? What organs are affected by Albinism? What are the complications of Albinism? What is the treatment option for patients suffering from Albinism? Impairment in which biosynthetic / degradation pathyway

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A ONE Min Paper on Gout

What is the Syndrome is likely to the patient is suffering from? What are the enzyme deficient or hyperactivity in Gout What type of Inheritance causes Gout? What are the compounds will accumulate in Gout? Which type of cells / organs are affected in Gout? How enzyme deficiency leads to GOUT? Is Gout is early onset or late onset ? List a few signs & Symptoms of Gout? What organs are affected by Gout? What are the complications of Gout? What is the treatment option for patients suffering from Gout? Impairment in which biosynthetic / degradation pathway 4/2/12 leads to Gout?

A Min Paper on DNA What is Structure type of DNA is present in Eukaryotic cells?
What are the cell organalles contains DNA? What type of DNA is present in the Mitochondria?. What are Histones and how many subunit s are there in histones and mention the fractions. Which are the major amino acids present in histones?. Where the replication and transcription proces ses occurs?. What is meant by translation and what is the cellular location it occurs?. What are the Nuclotides present in DNA? Name the pentose sugar present in the DNA? What type of bonds which exists in between two complementary nitogenous bases of DNA? How many hydrogen bonds exists in between purine & and how many hydrogen bonds exists in between pyrimidine?. Which nucleotide is in RNA and which nucleotide is absent in RNA molecule?. What type of bond which exists in between 3OH group & 5 end of pentose sugars of Nucleotides?. What type of bond which exists in between 1st carbon atom of pentose sugar and 9 Nitrogen atom of Purine or 4/2/12 77 pyrimidiene bases?

A Min Paper on DNA What is Structure type of DNA is present in Eukaryotic cells?
What are the cell organalles contains DNA? What type of DNA is present in the Mitochondria?. What are Histones and how many subunit s are there in histones and mention the fractions. Which are the major amino acids present in histones?. Where the replication and transcription proces ses occurs?. What is meant by translation and what is the cellular location it occurs?. What are the Nuclotides present in DNA? Name the pentose sugar present in the DNA? What type of bonds which exists in between two complementary nitogenous bases of DNA? How many hydrogen bonds exists in between purine & and how many hydrogen bonds exists in between pyrimidine?. Which nucleotide is in RNA and which nucleotide is absent in RNA molecule?. What type of bond which exists in between 3OH group & 5 end of pentose sugars of Nucleotides?. What type of bond which exists in between 1st carbon atom of pentose sugar and 9 Nitrogen atom of Purine or 4/2/12 88 pyrimidiene bases?

A Min Paper on DNA In which type of cells DNA Topoisomerase I is present & what Structure.
is the function of it?.

What is DNA Gyrase? What is the clinical application of DNA Gyrase? Name one Topoisomease I / DNA Gyrase Inhibitor? What is the function s of DNA Topoisomerase II inhibitors?. What is the clinical application of DNA Topoisomerase II inhibitors?
Name a few Topoisomerase Inhibitos acts as an anticancer / antineoplastic agents?

What is the function of Reverse Transcriptase?. What is meant by DNA annealing? At what temparature DNA denaturation (breakage of hydrgen bonds) occurs? What is the products of DNA replication & Transcription?. What is the product of Translation process?
What is Gene?. What are the different functional parts of gene 4/2/12 99 based on its function.

A Minute Paper on What is meant by Transcription & where it occurs? RNA

Is there any primers are required for RNA Biosynthesis? How many types of RNAs are there? and name them?. Which nucleotide is replaced in RNA in comparison with DNA?. List the Eukaryotic RNA polymerases & its specific functions? How many strands are there in RNAs?. Is RNA can fold itself to make intrachain hydrogen bonding? Which enzyme synthesizes RNA?. How many subuits are there in RNA polymerase and Name the individual subunits. What is meant by promotor site?. What is the functions of sigma factor?. What is the functions of rho factor?. Name the different types of termination process of transcription. What primer is needed for RNA biosynthesis? What is the function of Reverse Transcriptase?.

4/2/12 1010 Name the eukaryotic RNA polymerase inhibitor and its clinical applications?.

What is -Amanitin and its mode of action?. What is meant by Cistron? What is meant by Monocistronic & Polycistronic?. What is meant by promotor site?. Name the THREE stages of Transcription. What type of modification occurs in the 5 end and 3 end of Eukaryotic mRNA? And what is the purpose of these processes?. In which terminal region of mRNA the Polyadenylation occurs?. What is meant by direct splicing & Alternate Splicing?. What is the functions of Splicosomes?, and which part of the sequences are removed as a lariat?. What is meant by Introns & Exons?. Name the THREE termination codons? Is Transcription process exerts Proofread & Repairing functions? What is the reason that there is a lot of chance for mutations in RNA molecule? Which type of RNA contains codons & which type of RNA 4/2/12 1111 molecule contains anticodon regions?

A Minute Paper on RNA.

What terminal of the tRNA accepts amino acids?. Name the THREE different modified nucleotides present in the tRNA molecule. What is meant by Ribozyme / Peptidyl Transferase?. Is all enzymes are made up of polypertides / proteins?. Is there any exception that non-proteinacious substance can act as enzyme and exerts catalytic activity?. Name the THREE different regions of a Gene. What is meant by hnRNA / pre-mRNA. What is the functions of SnRNA? Which sequences of the mRNA encodes for a protein?. Is it Intron or Exaons?. If there is a mutation in the introns, what type of abnormality will appear in the protein expressed?. What is the usual length of Restricion fragments & what are the enzymes which will identfy Palindromic sequences.? What type of ends will be there in the restrction fragments ?. Is it blunt ends or Stick ends? What in meant by Transcriptase?. What is meant by Reverse Transcriptase?. What is meant by Temomeres?, What is the functions of

A Minute Paper on RNA.

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