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HUMAN GENETICS

HUMAN GENETICS. What can go wrong?. Chromosome Gene Mutations Mutations. Missing chromosomes (monosomy) EX: Turner’s syndrome - X0. CHROMOSOME MUTATIONS Changes in chromosome number ____________________________ ____________________________. Extra chromosomes (trisomy)

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HUMAN GENETICS

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  1. HUMAN GENETICS What can go wrong? ChromosomeGeneMutationsMutations

  2. Missing chromosomes (monosomy) EX: Turner’s syndrome - X0 CHROMOSOME MUTATIONS Changes in chromosome number ____________________________ ____________________________ Extra chromosomes (trisomy) EX: Down’s syndrome – 3 #21’s Kleinfelter’s syndrome- XXy

  3. GENE MUTATIONS Changes in the DNA code of a single gene

  4. SOMATIC CELL MUTATIONS If the change happens in a BODY CELL (lung, liver, brain, muscle, etc.) = ______________________ Somatic cell mutations can: ______________________ ______________________ _____________ Somatic cell mutation Cause cancer Make cell not able to function Kill cell • BUTwon’t be passed on to offspring

  5. GERM CELL MUTATION If the change happens in Gametes (sperm & eggs) = _______________________ Germ cell mutation • Can be passed on to offspring

  6. Beneficial – Gives organism a trait that helps it to survive Provides a way for species to change MUTATIONS can be: ____________________________ ____________________________ ____________________________ Harmful – Genetic disease, cancer Lethal – Causes DEATH (often before birth)

  7. Harmful Gene Mutations SINGLE 1. Point mutations – changes a _________ base in DNA code 1. __________________ 2. Frame shift mutationschanges _____________ bases in code 1. ___________________ 2. ________________ Substitution MULTIPLE Deletion Addition

  8. SUBSTITUTION Changes one base for another A T T C G A G C T A T T C T A G C T

  9. SICKLE CELL ANEMIA CAUSE: (autosomal recessive) A changed to T(glu to val) gene on chromosome #11 that codes for part of hemoglobin protein (carries oxygen in blood)

  10. SICKLE CELL ANEMIA SYMPTOMS: Sickle shaped Red Blood Cells in hh persons Circulatoryproblems Loss of blood cells (anemia) Organ damage DEATH

  11. SICKLE CELL ANEMIA More common in African Americans 1 in 500 = hh 1 in 10 = Hh carriers for gene Hh persons have Sickle cell TRAIT make some normal RBC’s’ ; some sickled cells

  12. DELETION Piece of DNA code is lost ________________________________________

  13. FRAME SHIFT MUTATIONSChanges multiple bases in code thefatcatranandran ____________________ DELETION theatcatranandran _____________________ the fat cat ran and ran the atc atr ana ndr an

  14. Duchenne Muscular Dystrophy CAUSE: (X linked recessive) deletion in gene that codes for a muscle protein

  15. Duchenne Muscular Dystrophy (DMD) SYMPTOMS: 1 in 3500 male births Appears before age 5 Progressive muscle weakening Most in wheelchair by age 13 Eventually lethal

  16. DUPLICATION Piece of DNA is copied too many times ________________________________________________

  17. FRAME SHIFT MUTATIONSChanges multiple bases in code thefatcatranandran ____________________ DUPLICATION thefatcatranandandandandran ___________________________ the fat cat ran and ran the fat cat ran and and and ran

  18. HUNTINGTON’S CAUSE: Autosomal dominant 40-100 CAG Repeats at end of gene on chromosome 4

  19. HUNTINGTON’S SYMPTOMS: Seen in both males and females • Degenerative brain disorder • Symptoms appear age 30-40 (Usually after having children) • Lose ability to walk, think, talk, reason • 50/50 chance of passing it to child

  20. Until now people didn’t know they had the gene, until after they had already had children. Now there is a test to tell if you have the gene before symptoms appear. Would you want to know if there is NO cure?

  21. INVERSION Segment flips and reads backwards

  22. OTHER GENETIC DISEASES AUTOSOMAL RECESSIVE • Phenylketonuria • Cystic fibrosis • Albinism • Hemophilia X-LINKED RECESSIVE • Color blindness AUTOSOMAL DOMINANT • Achondroplasia (Dwarfism)

  23. HEMOPHILIA CAUSE: change in gene on X chromosome that codes for blood clotting protein SYMPTOMS: More common in males Internal and external bleeding Can result in death transfusions/hospitalization required frequently to stop bleeding

  24. ACHONDROPLASIA(Dwarfism) CAUSE: (Autosomal recessive-chromosome 4)Most new mutations in egg or sperm cell, but can be inherited from parent with gene 1 in 20,000 births 200,000 “little people” worldwide One of oldest known – seen in Egyptian art Normal size torso; short arms and legs Problem with way cartilage changes to bone as bones grow

  25. COLOR BLINDNESS CAUSE: X linked recessive Mutation in gene on X chromosome SYMPTOMS:More common in males (8% of males are colorblind) Can’t distinguish certain colors Most common = red/green

  26. Cystic Fibrosis Mutation in gene on chromosome 7 that codes for protein in membrane that transports chloride ions

  27. Cystic Fibrosis Autosomal recessive Symptoms:More common in Caucasians Make extra thick mucous in lungs and pancreas which leads to respiratory and digestive complications Salty skin is clue

  28. Phenylketonuria (PKU) CAUSE: Mutation in gene for enzyme that changes the amino acid phenylalanine into tyrosine Build up causes brain damage ALL babies have blood test for PKU when born before leaving hospital Treatment:Diet low in phenylalanine can extend life and prevent retardation* Nutri-sweet warning

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