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Mutation: damage to genetic material or Changes in DNA that affect genetic information
Mutations causes
There are two ways in which DNA can become mutated:
Mutations can be inherited.
Parent to child
A mutation to genetic material is usually not beneficial. Mutagens are things that cause mutations, they include: 1. High Temperatures 2. Toxic Chemicals (pesticides, etc) 3. Radiation (nuclear and solar)
Mutations effect protein synthesis Transcription: Mutated DNA will produce faulty mRNA leading to the production of a bad protein.
Types of mutations
Chromosomal: affecting whole or a part of a chromosome . Largescale chromosome abnormalities, with loss or gain of chromosomes, breakage and rejoining e.g. deletions, duplications, inversions, translocations Gene: changes to the bases in the DNA of one gene. Smaller-scale mutations in the structure of a coding gene sequence or the non-coding DNA. Often milder effect.
NORMAL PROCESS
DNA (antisense strand)
mRNA
Normal gene GGTCTCCTCACGCCA CCAGAGGAGUGCGGU Codons Pro-Glu-Glu-Cys-Gly Amino acids
Polypeptide
All the triplets are changed, this in turn changes the amino acids of the protein!
Electrophoretogram
+
Hb F Hb A Hb S
_ _ _ _ _ _ _ _ _ _ _ __ _ _ _ _ _ _ _ N SD Prone to SD
Changing at the 6th amino acid chain creating polymers, linear, jelly Hb sickling cell
cell clotted, plugging small vessels
Chromosome Mutations
Changes in number and structure of entire chromosomes Original Chromosome ABC * DEF Deletion AC * DEF Duplication ABBC * DEF Inversion AED * CBF Translocation ABC * JKL GHI * DEF
Chromosome Mutations
Down Syndrome
Chromosome 21 does not separate correctly. They have 47 chromosomes in stead of 46. Children with Down Syndrome develop slower, may have heart and stomach illnesses and vary greatly in their degree of inteligence.