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MOLECULAR GENETICS Mutations Definition
A change in the nucleotide sequence of a chromosome. * Usually in a single gene.
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MUTATION Causes 1)Mutagens Definition
Physical or chemical agents causing mutations. 2)Errors in Replication Mismatched pairs of nucleotides. 3)Transposons DNA sequences that move within and between chromosomes altering gene expression.
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TRANSPOSON
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TRANSPOSON
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CHROMOSOMAL MUTATIONS
Definition A genetic change that affects large regions of chromosomes or entire chromosomes. Types Down Syndrome Extra chromosome 21 Fragile X Chromosome Breaking of an X chromosome near its tip.
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DOWNS SYNDROME
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FRAGILE X SYNDROME
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GENE MUTATIONS Definition Types
A change in the base sequence of DNA that alters individual genes. Types Point Mutation Substitution of one nucleotide Example AAA TCG -----> ACA TCG
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GENE MUTATIONS Nonsense Mutation Definition
Point mutation creating a stop codon.
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Tangier Disease
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GENE MUTATION Missense Mutation Definition
Point mutation coding for a different amino acid.
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HUTCHINSON-GILFORD PROGERIA SYNDROME
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GENE MUTATIONS Silent Mutation Definition
Point mutation with no amino acid change.
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GENE MUTATIONS Frameshift Mutation Definition
Point mutation causing a shift of nucleotides creating a different reading frame.
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CODON INSERTION CDON INSERTION
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MOLECULAR GENETICS Gene Therapy
Definition Providing a normal or functional gene to human cells to replace a nonfunctional gene.
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GENE THERAPY Nonhereditable
Definition Treating the symptoms in the affected individual only.
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GENE THERAPY Hereditable
Definition Preventing the disease from being passed on to the next generation.
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Good Gene Mutated Gene
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