XIV. Gene Mutation and Repair Chapter 17 Mutation: chromosomal aberations sequence chance in a single gene. In

Mar 28, 2014

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XIV. Gene Mutation and Repair Chapter 17 Mutation: chromosomal aberations sequence chance in a single gene. In

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DNA Mutations and Repair

DNA Mutations and Repair. Chapter 17. Mutation: is defined as an inherited change in genetic information by cell division or individual organisms. Chernobyl, April 26th, 1986. Mutations can be classified into categories. Categories of mutations. Somatic and germ line. Achondroplasia.

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Achondroplasia

Achondroplasia. Giovanni Correa 4 th Block Teacher: Mrs. Rogers. Achondroplasia. Common names: Dwarfism Short Stature. Type of Disorder. Gene mutation. A mutation in the FGFR3 gene (134934.0001) causes achondroplasia. Autosomal dominant disorder.

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Mutation and DNA

Mutation and DNA. Mutation = change(s) in the nucleotide/base sequence of DNA; may occur due to errors in DNA replication or due to the impacts of chemicals or radiation to the DNA molecule Mutation may result in coding sequences for new amino acids in proteins or not!.

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Mutations and DNA Technology

Mutations and DNA Technology. What is a mutation?. A mutation is a change in DNA Two types of mutations are gene mutations and chromosome mutations. Gene mutations. A POINT MUTATION is a mutation that affects one nucleotide or one base. Sometimes your cell catches it when proofreading.

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Warm-Up 2/23/07

Warm-Up 2/23/07. What are the 2 sources of Genetic Variation that we talked about? Mutation Gene Shuffling (Sexual Reproduction) How many phenotypes are usually produced by a single-gene trait ? 2, a single gene trait generally has 2 alleles, like the widow’s peak hairline in humans.

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Tumor Supressor Gene

Mutations increasing risk of cancer. Tumor Supressor Gene. Non-functional TSG. “Loss of function” mutation. Proto- oncogene. Oncogene (Hyperactive or unregulated or overexpressed). “Gain of function” mutation. The multiple-mutation model for the progression of cancer. Colon. Fig. 18-22.

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Gene – Expression – Mutation - polymorphism

Gene – Expression – Mutation - polymorphism. How are genes expressed ?. DNA . Transcription . Pre-mRNA. Cap. Poly(A ) . Splicing . Lariat intron. mRNA. Cap. Poly(A) . Degradation . Nucleus . mRNA transport . Translation . Cytoplasm. Ribosome. PROTEIN . MUTATION.

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Lecture 3: Single gene inheritance

Lecture 3: Single gene inheritance. Mutations. Haploinsufficient phenotpyes. Pax 6 mutation. normal. AC absent. Olfactory bulb hypoplasia. Pax 6 mutation phenotype: aniridia , hyposmia. Single gene inheritance in haploids: budding yeast. ascus. Products of meiosis in yeast.

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Human Genetics

Human Genetics. Section 13.3: Mutations Section 14.1: Human Chromosomes Section 14.2: Human Genetic Disorders. Mutations. Section 13.3. Vocabulary. Mutation Germ Mutation Somatic Mutation Gene Mutation Chromosomal Mutation Point Mutation Frameshift Mutation. Deletion Duplication

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GENETIC TECHNOLOGY

GENETIC TECHNOLOGY. GENETIC MUTATIONS. GENE MUTATIONS Change/mistake with individual gene Point Mutation – 1 amino acid is changed. Frameshift Mutation – an amino acid is added or deleted. GENETIC MUTATIONS. CHROMOSOMAL MUTATIONS Mistakes affect the entire chromosome

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Mutations

Mutations. Hollywood’s images of mutation. Mutations. Actual Mutations in fruit flies. What is a mutation?. A mutation is any change in a cell’s DNA A mutation can occur in an individual gene - results in a single changed protein

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DNA Mutations

DNA Mutations. Chapter 12.4. Mutation. Mutation : Any change in a gene is a mutation. Substances that cause a mutation are called mutagens. Mutations can also happen spontaneously. Point Mutation. A change in one nucleotide

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Genetic Mutations

Genetic Mutations. Chapter 27. Mutations. Just kidding…… Or am I???. Belgium blue (bull). Yes, it’s real!, and yes it’s all natural.. It’s a genetic MUTATION!. Gene Mutation aka “DNA mutation”. A change in the sequence of bases of DNA Possible Causes :

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Genetic Disorders

Genetic Disorders. A disease caused by a different form of a gene called a variation , or an alteration of a gene called a mutation. How genetic disorders occur. Monogenetic disorder – mutation of a single gene Is inherited Examples sickle cell anemia.

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Mutations

Mutations. Gene Mutation. Gene mutation is the change in the order of the A,G,C,T bases in a gene These altered genes can have a positive, negative or no effect on the organism. Types of Mutations. Deletion- One base is missing The Gene should be AC T GCGT But instead is ACGCGT

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Bacterial Genetics

Bacterial Genetics. Chapter 8. Diversity in Bacteria. Bacteria use three different mechanism to adapt to changing environments Mutation Gene transfer Regulation of gene expression. Spontaneous Mutation. Spontaneous mutations occur in natural environment Occur infrequently and randomly

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Mutation

Mutation. Xuhua Xia xxia@uottawa.ca http://dambe.bio.uottawa.ca. Mutation. - any detectable change in DNA sequence eg. errors in DNA replication/repair. inherited ones of interest in evolutionary studies. Deleterious. - will be selected against and lost ( purifying selection ).

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Cytogenetics

Cytogenetics. SM Kalantar Prof. Molecular Cytogenetic. *. *. *. *. *. *. Mutation to be altered the gene. A-T-C-C-G-T-C-A-C-G-G-T-A. GENE. MG, to be alte red the mRNA, & the Product (Protein). A-T-C-C- A-G -C-A-C-G-G-T-A. Mutated gene (affacted gene). al-val-luc-al. Disease.

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Genetics

Genetics. Mutations. Point mutation Missense mutation Nonsense mutation Frameshift mutation Trinucleotide repeat mutation. Mutations:. Decreased gene product or inactive protein: Enzymes:AR Regulation of complex metabolic pathways: e.g., LDL receptor

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Human Genetics

Mutations, Sex-linked traits, Disorders, Pedigrees. Human Genetics. What’s a Mutation?. A change in DNA sequence Two types: Changes in a single gene (called gene mutation) Changes in a whole chromosome (called chromosomal mutation). What’s a Mutation?. Gene Mutations: Two types…

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Mechanisms of Gene Mutation

Mechanisms of Gene Mutation. Lecture 7 Dr. Attya Bhatti. Molecular basis of gene mutations. Are of two types 1. Spontaneous mutations 2. Induced mutations Can be analyzed by Molecular Genetic Techniques. Spontaneous mutations. Arise from a variety of sources,

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Perubahan bahan genetik: Mutasi

Perubahan bahan genetik: Mutasi. What is a Mutation? A mutation : a permanent change in the DNA sequence of a gene. Mutations in a gene's DNA sequence can alter the amino acid sequence of the protein encoded by the gene. How does this happen ?

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