1 / 17

Chromosome Mutations

Explore mutations affecting DNA and genetic information, covering gene mutations like point and frameshift mutations, chromosome abnormalities such as Down and Turner syndromes, and their significance. Learn causes, symptoms, and impacts.

dank
Download Presentation

Chromosome Mutations

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. Chromosome Mutations Basic review of mutations and some inherited conditions Warm Up: Define MUTATION in your compbook or on a piece of paper

  2. Don’t let this happen to you!!

  3. MUTATIONS Changes in DNA that affect genetic information

  4. Gene Mutations • Point Mutations – changes in one or a few nucleotides • Substitution • THE FAT CAT ATE THE RAT • THE FAT HAT ATE THE RAT • Insertion • THE FAT CAT ATE THE RAT • THE FAT CAT XLW ATE THE RAT • Deletion • THE FAT CAT ATE THE RAT • THE FAT ATE THE RAT

  5. Gene Mutations • Frameshift Mutations – shifts the reading frame of the genetic message so that the protein may not be able to perform its function. • Insertion • THE FAT CAT ATE THE RAT • THE FAT HCA TAT ETH ERA T • Deletion • THE FAT CAT ATE THE RAT • TEF ATC ATA TET GER AT H H

  6. 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

  7. Significance of Mutations • Most are neutral • Eye color • Birth marks • Some are harmful • Sickle Cell Anemia • Down Syndrome • Some are beneficial • Sickle Cell Disease to Malaria • Immunity to HIV

  8. What Causes Mutations? • There are two ways in which DNA can become mutated: • Mutations can be inherited. • Parent to child • Mutations can be acquired. • Environmental damage • Mistakes when DNA is copied

  9. 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.

  10. Chromosome Mutations • Cri-du-chat • Deletion of material on 5th chromosome • Characterized by the cat-like cry made by cri-du-chat babies • Varied levels of metal handicaps

  11. Sex Chromosome Abnormalities • Klinefelter’s Syndrome • XXY, XXYY, XXXY • Extra X chromosome(s) • Male • Sterility

  12. Sex Chromosome Abnormalities • XYY Syndrome • Normal male traits • Often tall and thin • Associated with antisocial and behavioral problems

  13. Sex Chromosome Mutations • Turner’s Syndrome • X (just one) • Female • sterility • short stature • Will appear as a young girl • Normal to above average intelligence

  14. Sex Chromosome Mutations • XXX • Trisomy X • Female • Little or no visible differences • tall stature • learning disabilities • limited fertility

  15. Some mutations even make it on SNL!

More Related