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KARYOTYPE

KARYOTYPE. CHAPTER 14. GENE MAPPING. HUMAN GENOME PROJECT. RECESSIVE ALLELES. ALBINISM CYSTIC FIBROSIS GALACTOSEMIA PHENYLKETONURIA (PKU) TAY SACHS DISEASE. A PARENT CARRIER HAS ONE NORMAL GENE FOR WHATEVER

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KARYOTYPE

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  1. KARYOTYPE

  2. CHAPTER 14

  3. GENE MAPPING HUMAN GENOME PROJECT

  4. RECESSIVE ALLELES ALBINISM CYSTIC FIBROSIS GALACTOSEMIA PHENYLKETONURIA (PKU) TAY SACHS DISEASE A PARENT CARRIER HAS ONE NORMAL GENE FOR WHATEVER CAUSES THE DISEASE AND ONE GENE FOR THE DISEASE. IF ONE PARENT IS A CARRIER, NO CHILD WILL HAVE THE DISEASE IF BOTH PARENTS ARE CARRIERS, THEN THERE IS A 25% CHANCE OF THE DISEASE SHOWING UP SICKLE CELL ANEMIA

  5. DOMINANT ALLELES DOMINANT ALLELES IS ONE THAT INFLUENCES THE PHENOTYPE EVEN IF IT IS PRESENT IN ONLY ONE COPY ONE PARENT HAS A SINGLE, FAULTY DOMINAT GENE (D) WHICH OVER- POWERS ITS NORMAL COUNTERPART (d), AFFECTING THAT PARENT. WHEN THE AFFECTED PARENT (DD OR Dd) MATES WITH AN UNAFFECTED NON CARRIER MATE (dd), THE OFFSPRING ARE EITHER AFFECTED OR NOT AFFECTED AT ALL, BUT THEY ARE NOT CARRIERS.

  6. ACHRONDOPLASIA dwarfism) ….HUNTINGTON’S DISEASE---MENTAL DETERIORATION; MIDDLE AGE ……HYPERCHOLESTEROLEMIA---EXCESS CHOLESTEROL IN BLOOD; HEART DISEASE

  7. DISORDERS CAUSED BY CODOMINANT ALLELES NEITHER PHENOTYPE IS DOMINANT THIS MEANS THAT THE INDIVIDUAL EXPRESSES BOTH PHENOTYPES AN EXAMPLE OF CODOMINANT ALLELES IS TYPE AB BLOOD THERE ARE VERY FEW GENETIC DISORDERS CAUSED BY CODOMINANT ALLELES

  8. HUMAN GENES AND CHROMOSOMES • A HUMAN DIPLOID CELL CONTAINS MORE THAN 6 BILLION BASE • PAIRS OF DNA • THIS DNA IS PACKED INTO THE 46 CHROMOSOMES • GENES MAKE UP ONLY ABOUT 2% OF THE DNA IN YOUR • CHROMOSOMES. • A GENE CONTAINS ABOUT 3,000 BASE PAIRS. TO UNDERSTAND BASE PAIRS, WE MUST UNDERSTAND DNA FIRST

  9. D N A • IT IS SUPRISINGLY LONG • IT IS A TWISTED HELIX – SPIRAL STAIRCASE • EACH SIDE IS COMPOSED OF A SUGAR MOLECULE + A PHOSPHATE • MOLECULE + A NITROGEN BASE • THE TWO BASES THAT JOIN FROM EACH SIDE ARE HELD TOGETHER • BY A WEAK HYDROGEN BOND. • THERE ARE FOUR DIFFERENT TYPES OF NITROGEN BASES • A = ADENINE • T = THYMINE • C = CYTOSINE • G = GUANINE

  10. PHOSPHATE MOLECULE + A SUGAR MOLECULE + A NITROGEN BASE = NUCLEOTIDE A CAN ONLY PAIR WITH T T CAN ONLY PAIR WITH A C CAN ONLY PAIR WITH G G CAN ONLY PAIR WITH C THIS IS THE BASE PAIRING RULE DNA CAN SPLIT APART OR REPLICATE ITSELF TO FORM ANOTHER DNA IT WOULD DO THIS BECAUSE THE CHROMOSOMES ARE REPLICATING IT WOULD DO THIS IN INTERPHASE OF MITOSIS DNA SPEAKS IN TRIPLETS… READ ONE SIDE OF DNA…SEE BOARD

  11. DNA MAKES THE MESSAGES FOR PROTEINS DNA CAN ONLY STAY IN THE NUCLEUS OF THE CELL DNA MUST MAKE SOMETHING THAT CAN LEAVE THE NUCLEUS AND GO INTO THE CYTOPLASM TO GET THE INGREDIENTS (AMINO ACIDS) TO MAKE THE PROTEINS DNA MAKES MESSENGER RNA….mRNA THE MAKING OF MESSENGER RNA IS CALLED TRANSCRIPTION ,,mRNA IS SINGLE STRANDED , ..mRNA HAS NO THYMINE…IT HAS URACIL DNA-------TAC GGA CCT ACG GAC ACC…. ..mRNA----AUG CCU GGA UGC CUG UGG…. AUG CODES TO BE METHIONINE CCU CODES TO BE PROLINE GGA CODES TO BE GLYCINE UGC CODES TO BE CYSTEINE CUG CODES TO BE LEUCINE UGG CODES TO BE TRYPTOPHAN

  12. How do the actual DNA sequences affect phenotype so profoundly?

  13. IN BOTH CYSTIC FIBROSIS AND SICKLE CELL DISEASE… ….A SMALL CHANGE IN THE DNA OF A SINGLE GENE AFFECTS THE STRUCTURE OF OF A PROTEIN, CAUSING A SERIOUS GENETIC DISORDER

  14. MINI QUIZ NO CARRIERS ARE SHOWN….HALF COLORED BOXES OR CIRCLES The trait is freckles If you have them, it Is recessive – ff If you do not have them, you Are FF or a carrier, Ff 1. GENERATION I --- WHAT MUST 2 BE? GENERATION II----WHAT MUST 1, 3, 6 AND 7 BE? GENERATION III---WHAT MUST 1, 3, 5, 7, 8,9, 10, 11, 12, 13,14 AND 15 BE? GENERATION IV---WHAT MUST 1, 3, AND 4 BE? IN GENERATION III, GIVE THE NUMBERS OF THE PARENTS. IN GENERATION IV, WHICH COUPLES MARRIED? SHOW YOUR PUNNETT SQUARES AA = NO TRAIT Aa = CARRIER OF THE TRAIT Aa = HAS THE TRAIT

  15. QUESTION 2 TELL IF THE DONOR TO RECIPIENT CAUSES CLUMPING OR NO CLUMPING

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