PPT-Single Nucleotide Polymorphisms

Arthur M Lesk Bologna Winter School 2011 1 What are SNPs and why are they important SNP Single nucleotide polymorphism an isolated change in a single nucleotide SNPs are one type of mutation . Basic Local Alignment Search Tool. (Altschul et al. 1990. ). What is blast. ?. BLAST .  DNA/protein databases. GOOGLE  internet. . D. Fristrom, Boston U. .. Uses for Blast. . Identifying unknown sequence. Judy H. Cho, M.D. . Ward-Coleman Professor of Translational . Genetics and . Medicine, Icahn School of Medicine at Mount Sinai. December 6th, 2014. Questions . What naturally occurring genetic polymorphisms are associated with IBD? . nucleotides is essential for . life . processes. nucleotides . are the . activated precursors . of nucleic . acids. As such, they are necessary for the replication of the genome . an . adenine nucleotide, ATP, is . Mrs. Stewart. Medical Interventions. Central Magnet School. Bell Work. Why is . Taq. polymerase used in PCR instead of human polymerase?. Answer on your own paper . Objective. Use laboratory techniques such as DNA extraction, PCR, and restriction analysis to identify single base pair differences in . How many genes determine important traits?. Where these genes are located?. How do the genes interact? . What is the role of the environment in the phenotype?. Molecular breeding: Gene discovery, characterization, and selection using molecular tools. How many genes determine important traits?. Where these genes are located?. How do the genes interact? . What is the role of the environment in the phenotype?. Molecular breeding: Gene discovery, characterization, and selection using molecular tools. E . Wachman. , M Hayes, M Brown, J Paul, K Harvey-Wilkes, . N . Terrin. , G Huggins, JV . Aranda. , and JM Davis. JAMA Media Briefing. April 30, 2013. Disclosures. No . C. onflicts of Interest. This study was supported in part by NIH funding: DA024806-01A2 to Dr. Marie Hayes and R01DA032889-01A1 to Dr. Jonathan Davis. (1979) –. Bio-. biology,Informatique. -Data processing. Study of information content and flow in a biological system with the help of IT.. Multidisciplinary branch. Historical background:. 1961-identified mRNA- . Conditional mutations. Point mutations. In . point mutations . the sequence of the DNA has been altered at a single position. Where this change consists of replacing one nucleotide by another, it is known as a . Genotype . www.pnas.org. #. cgi. #. doi. #. 10.1073. #. pnas.0711034105. Phenotype (trait) . https://. www.ncbi.nlm.nih.gov/nuccore. DNA. R. NA. Protein . Covered barley:. Lemma and . palea. adhere. Chadha M, Comer JA, Lowe L, Rota PA, Rollin PE, Bellini WJ, et al. Nipah Virus-associated Encephalitis Outbreak, Siliguri, India. Emerg Infect Dis. 2006;12(2):235-240. https://doi.org/10.3201/eid1202.051247. Fischer TK, Midgley S, Dalgaard C, Nielsen AY. Human Parechovirus Infection, Denmark. Emerg Infect Dis. 2014;20(1):83-87. https://doi.org/10.3201/eid2001.130569. Megid J, Borges IA, Abrahão JS, Trindade GS, Appolinário CM, Ribeiro MG, et al. Vaccinia Virus Zoonotic Infection, São Paulo State, Brazil. Emerg Infect Dis. 2012;18(1):189-191. https://doi.org/10.3201/eid1801.110692. Is a natural process that changes a DNA sequence.. Mutant or Mutation – to describe something undesirable or broken.. Rarely cause death or disease. Generates new variations that can give an individual a survival advantage..