PPT-21.7 Genetic Mutations A peacock with albinism does not produce the melanin needed to

Learning Goal Identify the type of change in DNA for a point mutation a deletion mutation and an insertion mutation Genetic Mutation A mutation is a change in the nucleotide sequence of DNA. Changes in . DNA. that affect genetic information. Gene Mutations. Point Mutations – changes . in one or a few. nucleotides. Substitution. THE FAT CAT ATE THE RAT. THE FAT HAT ATE THE RAT. Insertion. Elie Traer. September 13, 2012. Outline. Genetic tests and methodology. Cytogenetics. , i.e. large chromosomal abnormalities. FISH, smaller chromosomal changes. Genetic mutations. AML. Evolution of genetic tests in diagnosis and prognosis. v. icky. s. . wang. What is it?. Albinism is a defect of . melanin production . that results in little or . no color . (pigment) in . the . skin, hair, and eyes. .. Melanin . is a . skin pigment (substance that gives the skin its color). Dark-. The three factors that influence skin color are: The chemical composition of one’s skin, the biological evolution of skin colour and, the effect that environmental surroundings have on skin colour. . Making melanin pigment. The . TYR. gene is just one of many genes on the human number-11 chromosome. . The . TYR. gene encodes a protein that functions as the enzyme, . tyrosinase. . This enzyme catalyses a step in the pathway that produces the pigment, . Mutation. Permanent change in the genetic material of an organism. All mutations in gametes are inheritable because they are copied during DNA replication. Somatic cell mutations occur in body cells. Richard D. Howells, PhD. Dental Biochemistry Lecture 25 . 2. Learning Objectives. To distinguish between phenylketonuria (PKU) caused by phenylalanine hydroxylase (PAH) defect and PKU caused by defect in . Nobody’s perfect all the time . About 1/10 billion base pairs end up with a error or mutation . Mutation: Mistake in DNA replication or an environmental effect that . results. in a change to the nitrogenous bases in DNA or RNA. . Nobody’s perfect all the time . About 1/10 billion base pairs end up with a error or mutation . Mutation: Mistake in DNA replication or an environmental effect that . results. in a change to the nitrogenous bases in DNA or RNA. . M. istakes made in the DNA sequencing. They can have a range of effects.. They can affect the genetic information that is passed to offspring.. Cells have evolved various methods to deal with them. . The sequence of bases in DNA are like the letters of a coded message or even the letters of a simple alphabet. . If we change the sequence of the letters do we change the nature of the message?. That . Unit 8: Protein Synthesis . 6A: Identify components of DNA, identify how information for specifying the traits of an organism is carried in the DNA, and examine scientific explanations for the origin of DNA.. KEY CONCEPT:. . Mutations. are changes in genetic material.. VOCABULARY:. Mutation, point mutation, . frameshift. mutation, polyploidy. Mutations – extension from gene expression. . Changes in genotype. If the enzyme that converts tyrosine to melanin is defective, no melanin is produced and a genetic disease known as albinism results.. A peacock with albinism does not produce the melanin needed to make the bright colors of its feathers..