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MUTATIONS: - A source of variation

Mutations are changes in the DNA nucleotide base sequence or chromosome structure, leading to variation. They can arise from mutagens and are categorized into point mutations and chromosomal mutations. Point mutations involve single nucleotide changes, such as substitutions, deletions, and insertions, affecting gene function. Chromosomal mutations include aneuploidies like trisomy from improper chromosome separation during meiosis, leading to conditions like Down syndrome and Klinefelter syndrome. This guide explores the nature of mutations, their types, and their impacts on genetics.

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MUTATIONS: - A source of variation

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  1. MUTATIONS: - A source of variation A change in the nucleotide base sequence of the DNA or a change in the structure or number of chromosomes

  2. Mutagens • Mutagens cause mutations which are mistakes in the base sequence of the DNA. (If you change the recipe, you change the cake)

  3. There are two types: Point mutations and chromosomal mutations • Point Mutations involve changing a single nucleotide base. There are 3 types:

  4. Substitution mutations involve replacing one base with another. Like a sports team… TAC ACC GTA TTC CAT TCC (old DNA) TAC ACC GTG TTC CAT TCC (new DNA) This may or may not change the product being made, depending on where it occurs. If it is in the last position of a triplet, then not so bad, if it is in the first or second, then it probably will change.

  5. Deletion mutations remove a base TAC ACC GTA TTC CAT TCC (old DNA) TAC ACC GTTTCC ATT CC (new DNA) • Insertion mutations add an extra base TAC ACC GTA TTC CAT TCC (old DNA) TAC ACC GTA TTT CCA TTC (new DNA)

  6. Identify the mutation in the following sequence • TTC TCC AGA CTT GAT TGA TCT • Becomes • TTC TCC AGA CTT TAT TGA TCT • Or this one… • AAG AGG UCU GAA CUA ACU AGA becomes • UAG AGG UCU GAA CUA ACU AGA

  7. Chromosomal mutations • Having an extra chromosome or one too few • Sometimes, chromosomes fail to separate during 1st or 2nd stages of meiosis • This means that one gamete (sex cell eg sperm or egg) may be missing a chromosome OR • The others will have an extra chromosome and, when fertilised, will have three copies – trisomy • Examples are: downs syndrome, kleinfelters syndrome

  8. Karyotypes (pictures of chromosome pairs) • Normal male • Normal female

  9. Examples: Patau’s syndrome

  10. Downs syndrome

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