1 / 23

Understanding Mutations: Changes in Genetic Material

This text provides an overview of mutations, including changes in DNA and chromosomal mutations. It explains the different types of mutations, their effects on gene structure, and their potential impact on the development of genetic disorders.

demetriae
Download Presentation

Understanding Mutations: Changes in Genetic Material

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Mutations

  2. Changes in genetic material (DNA) Mistakes can happen in DNA replication. Mutations

  3. Change in one or a few nucleotides Original DNA: TAC GCA TGG AAT mRNA: AUG CGU ACC UUA AA: Met - Arg - Thr - Leu After Substitution DNA: TAC GTA TGG AAT mRNA: AUG CAU ACC UUA AA: Met - His - Thr - Leu Point Mutations (Substitutions)

  4.  Nucleotide is added or deleted, shifting the whole sequence Original DNA: TAC GCA TGG AAT mRNA: AUG CGU ACC UUA AA: Met - Arg - Thr - Leu After Insertion (everything shifts over) DNA: TAT CGC ATG GAA T mRNA: AUA GCG UAC CUU A AA: Ile - Ala - Tyr - Leu Frameshift Mutations: Insertions

  5.  Nucleotide is added or deleted, shifting the whole sequence Original DNA: TAC GCA TGG AAT mRNA: AUG CGU ACC UUA AA: Met - Arg - Thr - Leu After Deletion(everything shifts over) DNA: TAG CAT GGA AT mRNA: AUC GUA CCU UA AA: Ile - Val - Pro Frameshift Mutation: Deletion

  6. Chromosomal Mutations • Chromosomal mutations: mutations that produce changes in the number or structure of chromosomes; may even involve changing the location of genes on chromosomes or the number of copies of some genes

  7. Chromosomal Mutations: Deletion • Deletion: the loss of all or part of a chromosome

  8. Chromosomal Mutation: Duplication • Duplication: extra copies of parts or all of a chromosome

  9. Chromosomal Mutation: Inversion • Inversion: reverses the direction of parts of a chromosome

  10. Chromosomal Mutation: Translocation • Translocation: when part of one chromosome breaks off and attaches to another chromosome

  11. Mutations can be harmful,beneficial, or have no effect Codons code for only one amino acid, but amino acids can have more than one codon Important Points:

  12. Day 9: What’s Going On? • Standard HS-LS1-1. Construct an explanation based on evidence for how the structure of DNA determines the structure of proteins, which carry out the essential functions of life through systems of specialized cells. HS-LS1-4 Use a model to illustrate the role of cellular division (mitosis) and differentiation in producing and maintaining complex organisms. HS-LS3-2. Make and defend a claim based on evidence that inheritable genetic variations may result from:  (1) new genetic combinations through meiosis, (2) viable errors occurring during replication, and/or (3) mutations caused by environmental factors. Objective: SWBAT • Create a Karyotype • Analyze a Karyotype to determine chromosomal abnormalities caused by errors in meiosis Catalyst:

  13. Karyotype: • A picture is taken of a person’s chromosomes  Organized

  14. Karyotype:

  15. Autosomes: • Non sex-determining chromosomes; don’t determine your gender • 22 types (#s 1 – 22) • 22 from mom • 22 from dad • 22 (mom) + 22 (dad) = 44 total autosomes

  16. Sex Chromosomes • 2 Sex chromosomes • 1 from mom + 1 from dad = 2 total sex chromosomes. • 2 types: X or Y • Does the Mother or Father determine the Sex of their child? Female Male

  17. Human Chromosome Count Autosomes: 44 Sex-Chromosomes: + 2 Total # of chromosomes: 46 • What does N = in Humans? • What does 2N = in Humans?

  18. All cells that make up our bodies have chromosomes inside them. (remember chromosomes are made of DNA). • Most cells have 46 chromosomes (2N). • Sex-cells (sperm and eggs) only have 23 chromosomes (1N).

  19. Why would we use a Karyotype? Identify Sex (Male or Female) Disorders an individual may have caused by CHROMOSOMAL ABNORMALITIES. For example, Down Syndrome Kleinfelter’s Syndrome Turner’s Syndrome

  20. Down Syndrome3 chromosomes for chromosome #21

  21. Turner Syndrome*Only one X Chromosome

  22. Klinefelter’s Syndrome*2 X and 1 Y Chromosome

  23. Why do tests? • Our MISSION: • To make sure the baby is healthy • To check for genetic disorders

More Related