36 What are some applications of DNA sequencing 37 List 3 major methods of DNA

36 what are some applications of dna sequencing 37

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36. What are some applications of DNA sequencing? 37. List 3 major methods of DNA sequencing. a. b. c.
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74 38. Direct, or Sanger, Sequencing is also known as: 39. What is the difference between a deoxyribose and a dideoxyribose? Could you label them? 40. What is a ddNTP and what is its function in Sanger Sequencing? 41. In Sanger sequencing, once the DNA fragments are run through a gel, is the sequence read from top (by the sample wells) to bottom or bottom to top? 42. Could you write out the sequence from this gel (Sanger Sequencing technique)? Sample Wells
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75 43. What is the general principle of pyrosequencing? 44. What is DNA fingerprinting? 45. What % of the human genome is the same in most of the population? 46. What are RFLPs? 47. What are the major differences between VNTRs and STRs? Which one is potentially more useful in forensics? 48. What is CODIS? How many core STR loci does it analyze? 49. Who is the father of the baby? 50. Terms to review: a. Denaturation b. Annealing c. Elongation/Extension d. Amplicon e. cDNA f. Reverse transcriptase g. Renaturation h. Probe (know probe vs. primer) i. Polymorphism j. Target k. dNTP vs. ddNTP
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76 Lecture 13: Chromosome Structure & Chromosome Mutations Objectives Following the lecture, the student will be able to: 1. Define mutations and polymorphisms. 2. Distinguish the three types of DNA mutations: genome, chromosomal, and gene. 3. Identify a normal human chromosome and locate the centromere, telomere, q arm, and p arm. 4. Explain how karyotypes are made and state the karyotype designation of a normal male and female. 5. Recognize the chromosomal abnormality in a given karyotype. 6. Describe the basic principle, uses, advantages, and disadvantages of fluorescent in situ hybridization (FISH). I. Introduction & Terms Human genome: all the genes found in a single individual o Consists of 2.9 billion nucleotide base pairs of DNA organized into 23 chromosomes o Humans have two copies of every gene (except for some on the X and Y chromosomes) Terms o Genotype: genetic DNA composition of an individual o Phenotype: physical characteristics of an individual resulting from genotype o Mutation: a change in the sequence of nucleotides in DNA present in a small percentage of the population; usually used to describe rarer genetic changes o Polymorpism: a variance in DNA found in a small percentage of the population Polymorphisms are considered mutations that do not severely affect phenotype o Euploid: having the proper number of chromosomes per nucleus o Aneuploidy: having other than two of each chromosome, caused by genome mutations o Karyotype: the complete set of metaphase chromosomes of a cell Genotypic analysis is done to confirm or predict phenotype o Mutations and polymorphisms may or may not produce phenotypic differences Three categories of DNA mutations: o Gene: affect single genes; often small changes in DNA o Chromosome: affect the structures of entire chromosomes o Genome: changes in the number of chromosomes
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77 II. Chromosome Morphology Image: ResearchGate.net Terms Centromere: the site of attachment of the chromosome to the spindle Telomere: the end of a chromosome composed of
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