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Bell Ringer #1 Think about your family for a moment. What physical characteristics or traits do you share with your family members? What personality characteristics do you share with some of your family members?. http:// www.youtube.com/watch?v=ToAozF30e9g.

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  1. Bell Ringer #1 Think about your family for a moment. What physical characteristics or traits do you share with your family members? What personality characteristics do you share with some of your family members? http://www.youtube.com/watch?v=ToAozF30e9g

  2. Introduction to Genetics for beginners An Introduction to basic genetic concepts and links to health for individuals who have had minimal experience of genetics

  3. The objectives of this presentation are to: • Understand the role and structure of DNA, genes and chromosomes. • Understand that proteins are encoded by genes • Be aware that alterations in genetic material can cause disease DNA, genes & chromosomes

  4. The structure of DNA, genes & chromosomes Genes are a set of coded instructions that code for a specific trait!

  5. Gene for cystic fibrosis (chromosome 7) • Chromosomes are made of DNA. • Each contains genes in a linear order. • Human body cells contain 46 chromosomes in 23 pairs – one of each pair inherited from each parent • Chromosome pairs 1 – 22 are called autosomes. • The 23rd pair are called sex chromosomes: XX is female, XY is male. Chromosomes Gene for sickle cell disease (chromosome 11)

  6. p Centromere q Chromosomes Chromosome 5

  7. A normal male chromosome pattern would be described as: 46,XY. 46 = total number of chromosomes XY = sex chromosome constitution (XY = male, XX = female). Any further description would refer to any abnormalities or variantsfound The Karyotype

  8. Total Genes On Chromosome: 723 373 genes in region marked red, 20 are shown FZD2 AKAP10 ITGB4 KRTHA8 Genes are arranged in linear order on chromosomes WD1 SOST MPP3 MLLT6 STAT3 BRCA1 breast cancer 1, early onset GFAP NRXN4 NSF NGFR CACNB1 HOXB9 HTLVR ABCA5 CDC6 ITGB3 Chromosome 17source: Human Genome Project

  9. Most frequent numerical anomalies in liveborn Autosomes Down syndrome (trisomy 21: 47,XX,+21) Edwards syndrome (trisomy 18: 47,XX,+18) Patau syndrome (trisomy 13: 47,XX+13) Sex chromosomes Turner syndrome 45,X Klinefelter syndrome 47,XXY All chromosomes Triploidy (69 chromosomes)

  10. Summary of Chromosome Anomalies • Change in number e.g. trisomy 21 Down syndrome; Edwards’ syndrome; Turner syndrome. Usually an isolated occurrence. • Change in structure e.g. deletions May be inherited. Trisomy 21

  11. The DNA Double Helix

  12. Disease-Associated Mutations Alter Protein Function

  13. Mutation – an alteration or change in the genetic material • In clinical use usually = “harmful” • Inherited • From exposure to mutagenic agents but more arise spontaneously through errors in DNA replication / repair • More likely to be recognized if effects are detrimental What is a mutation?

  14. Human body cells contain 46 chromosomes in 23 pairs – one of each pair is inherited from each parent • Chromosomes are made of DNA • Each chromosome contains genes in a linear order; like beads on a string • Genes are codes for cells to make proteins • Alterations in genes or chromosomes alter the protein produced and can hence cause disease Summary

  15. http://syndrome.org/patau-syndrome/ http://www.healthofchildren.com/E-F/Edwards-Syndrome.html

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