unit4 - 1 Unit 4 F08 Genetic Diseases Mutant Genes and...

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Unformatted text preview: 1 Unit 4 F08 Genetic Diseases, Mutant Genes and Proteins Human karyotype: chromosomes are “painted” with chromosome-specific fluorescent DNA dyes! 2 Unit 4 F08 Genetic Diseases, Mutant Genes and Proteins TH 11/13 Unit 4 Genetic Diseases TU 11/18 Unit 4 Genetic Diseases TH 11/20 Unit 5 Genetic Testing TU 11/25 Unit 5 Genetic Testing WE 11/26 UMass closes for Thanksgiving TU 12/02 Unit 6 DNA Forensics TH 12/04 Unit 7 Human Cloning TU 12/09 In class review for Exam #3 TH 12/11 EXAM #3 FR 12/12 last day of classes at UMass 3 Unit 4 F08 Genetic Diseases, Mutant Genes and Proteins Organization of Unit 4 Genetic Diseases Genes encode proteins with a focus on translation How mutations in DNA alter the protein products Connections between mutant genes and genetic diseases Genetic code and protein sequences Three Main Types of Genetic Diseases: Single Gene Disorders - a mutation alters the protein product of a single gene Examples: Cystic Fibrosis and Sickle Cell disease Chromosome Abnormalities – disorders caused by deletions, duplications or rearrangements involving chromosomes, or large segments of chromosomes Examples: Down Syndrome, Klinefelter Syndrome and Turner Syndrome Multifactorial Disorders - mutations in multiple genes that are often coupled with environmental factors Examples: Colon cancer and Alzheimer’s disease 4 Genetic Disease is caused by a mutant gene that is transmitted to biological children by genetic inheritance . What is a Genetic Disease? (sperm or egg) RNA RNA mRNA codons specify amino acids in proteins DNA Replication Codon: AUG RNA contains the specific order of RNA letters copied from the DNA template. mRNA contains 3-letter words called codons . Each codon specifies one amino acid. The order of the codons in mRNA specify the order of the amino acids in the protein. Protein chain amino acids mRNA RNA letters specify the order of amino acids in the protein chain. DNA 6 A mutation changes the bases (letters) in the DNA and RNA A mutation can alter coding (gene) or non-coding regions. If a mutation changes the DNA sequence in the part that codes for a protein (coding region), it might change the amino acid sequence of the protein. If a mutation changes the DNA in the gene control region , it does not change the amino acid sequence of the protein, but might alter the way the gene is expressed. How Does a Mutant Gene Cause a Genetic Disease? Only one RNA strand shown 7 • A single base-pair change in DNA is a point mutation . • Addition of one or more base-pairs into a DNA helix is an insertion mutation . • Removal of one or more base-pairs from a DNA helix is a deletion mutation . Mutating just one base-pair can cause a wide range of possible changes in phenotypes from viability to lethality, depending on how the DNA and RNA mutations can alter the structure and function of the protein product!...
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unit4 - 1 Unit 4 F08 Genetic Diseases Mutant Genes and...

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