MENDELIAN GENETICS   AND HUMANS
MENDELIAN GENETICS AND HUMANS               Human Blood GroupsLet the allele for blood type be represented by “I”         ...
MENDELIAN GENETICS AND HUMANS                                Human Blood GroupsIA = Type A (dominant)IB = Type B (dominant...
MENDELIAN GENETICS AND HUMANS                     Human Blood GroupsWhat are the genotype and phenotype ratios of the offs...
MENDELIAN GENETICS AND HUMANS                      Human Blood GroupsIs it possible for a Type A father and a Type B mothe...
MENDELIAN GENETICS AND HUMANS                      Human Blood GroupsIs it possible for a Type A father and a Type B mothe...
MENDELIAN GENETICS AND HUMANS                             Inheritance PatternsAutosomal recessive:Involves a recessive all...
MENDELIAN GENETICS AND HUMANS                                    Human Traits                             Mid-digital hair...
MENDELIAN GENETICS AND HUMANS                       Human genetic disorders     ProgeriaInheritance Pattern:-Autosomal dom...
MENDELIAN GENETICS AND HUMANS                       Human genetic disorders Huntington diseaseInheritance Pattern:-Autosom...
MENDELIAN GENETICS AND HUMANS                       Human genetic disorders Tay Sachs DiseaseInheritance Pattern:-Autosoma...
MENDELIAN GENETICS AND HUMANS                       Human genetic disordersPhenylketonuria (PKU)Inheritance Pattern:-Autos...
MENDELIAN GENETICS AND HUMANS                           Human genetic disordersAlbinismInheritance Pattern:-Autosomal rece...
MENDELIAN GENETICS AND HUMANS                        Human genetic disordersFamilialhypercholesterolemia(FH)Inheritance Pa...
MENDELIAN GENETICS AND HUMANS                       Human genetic disordersSickle cell anemiaInheritance Pattern:-Autosoma...
MENDELIAN GENETICS AND HUMANS                       Human genetic disordersHemophilia AInheritance Pattern:-X-linked reces...
MENDELIAN GENETICS AND HUMANS                        Human genetic disordersColour blindnessInheritance Pattern:-X-linked ...
MENDELIAN GENETICS AND HUMANS                       Human genetic disordersDuchenne musculardystrophyInheritance Pattern:-...
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05 mendelian genetics and humans

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  • http://www.nobelprize.org/educational/medicine/bloodtypinggame/game/index.html
  • Antigens = agglutinogens
  • 05 mendelian genetics and humans

    1. 1. MENDELIAN GENETICS AND HUMANS
    2. 2. MENDELIAN GENETICS AND HUMANS Human Blood GroupsLet the allele for blood type be represented by “I” IA = Type A (dominant) codominant IB = Type B (dominant) i = Type O (recessive)
    3. 3. MENDELIAN GENETICS AND HUMANS Human Blood GroupsIA = Type A (dominant)IB = Type B (dominant)i = Type O (recessive) Blood Types Genotype Antigen (phenotype) Antibody A IAi or IAIA Type A Anti-B B IBi or IBIB Type B Anti-A AB IAIB Type AB None O ii Type O Anti A, Anti B
    4. 4. MENDELIAN GENETICS AND HUMANS Human Blood GroupsWhat are the genotype and phenotype ratios of the offspringbetween a Type AB male and Type O female?Parent genotypes: IAIB x ii IA IB Therefore: i I Ai I Bi F1 genotypes i I Ai I Bi 1 IAi : 1IBi F1 phenotypes 1 Type A : 1 Type B
    5. 5. MENDELIAN GENETICS AND HUMANS Human Blood GroupsIs it possible for a Type A father and a Type B mother toproduce Type O children?Let’s assume the parents arehomozygous IAIA and IBIBParent genotypes: IAIA x IBIBParent gametes: IA IA x IB IB IA IA Therefore: IB I AI B I AI B F1 genotypes 100% IAIB IB I AI B I AI B F1 phenotypes 100% Type AB blood None of the children have O-type blood. So let’s assume the parents are both heterozygous
    6. 6. MENDELIAN GENETICS AND HUMANS Human Blood GroupsIs it possible for a Type A father and a Type B mother toproduce Type O children?Let’s assume the parents areheterozygous IAi and IBiParent genotypes: IAi x IBiParent gametes: IA i x IB i IA i Therefore: F1 genotypes IB I AI B I Bi 25% IAIB 25% IAi 25% IBi 25% ii i I Ai ii F1 phenotypes 25% Type A, 25% Type B, 25% Type AB, and 25% Type O So it IS possible!!!
    7. 7. MENDELIAN GENETICS AND HUMANS Inheritance PatternsAutosomal recessive:Involves a recessive allele ona non-sex chromosomeAutosomal dominant:Involves a dominant alleleon a non-sex chromosomeX-linked recessive:Involves a recessive allele onthe X-chromosomeX-linked dominant:Involves a dominant alleleon the X-chromosomeY-linked: Involves an alleleon the Y-chromosome
    8. 8. MENDELIAN GENETICS AND HUMANS Human Traits Mid-digital hair – dominant Tongue rolling – dominant Widows peak – dominant Earlobes – dominant Hitchhikers thumb less than 45° - dominant Relative finger length An interesting sex influenced (not sex-linked) trait relates to the relative lengths of the index and ring finger. In males, the allele for a short index finger (S) is dominant. In females, it is recessive. In rare cases each hand may be different. If one or both indexfingers are greater than or equal to the length of the ring finger, the recessive genotype is present in males and the dominant present in females.
    9. 9. MENDELIAN GENETICS AND HUMANS Human genetic disorders ProgeriaInheritance Pattern:-Autosomal dominantPhysical Effects:-Premature aging,prematurely old-Few exceed 13 years old-90% die from complicationsfrom atherosclerosis
    10. 10. MENDELIAN GENETICS AND HUMANS Human genetic disorders Huntington diseaseInheritance Pattern:-Autosomal dominantPhysical Effects:-Progressive brain disordercausing uncontrolledmovements and loss ofcognition-May live for 15-20 years afteronset of symptoms-Trouble eating, swallowing,talking, etc.
    11. 11. MENDELIAN GENETICS AND HUMANS Human genetic disorders Tay Sachs DiseaseInheritance Pattern:-Autosomal recessivePhysical Effects:-Nerve cells destroyed in brainand spinal cord-Symptoms appear 3-6 monthsafter birth-Loss of motor control andatrophy of muscles, seizures-Death
    12. 12. MENDELIAN GENETICS AND HUMANS Human genetic disordersPhenylketonuria (PKU)Inheritance Pattern:-Autosomal recessivePhysical Effects:-Permanent intellectualdisability, seizures-Symptoms appear a fewmonths after birth-May have a “musty” odour
    13. 13. MENDELIAN GENETICS AND HUMANS Human genetic disordersAlbinismInheritance Pattern:-Autosomal recessivePhysical Effects:-Lack of melanin in skin, hair,and/or eyes-May have vision problems-Sensitivity to UV light
    14. 14. MENDELIAN GENETICS AND HUMANS Human genetic disordersFamilialhypercholesterolemia(FH)Inheritance Pattern:-Autosomal dominantPhysical Effects:-Very high levels of cholesterolin blood-Buildup of excess cholesterolin various bodily tissues-High risk of atherosclerosis
    15. 15. MENDELIAN GENETICS AND HUMANS Human genetic disordersSickle cell anemiaInheritance Pattern:-Autosomal recessivePhysical Effects:-Shortness of breath, fatigue,delayed growth anddevelopment in children-May experience painfulepisodes of anemia resulting inorgan damage
    16. 16. MENDELIAN GENETICS AND HUMANS Human genetic disordersHemophilia AInheritance Pattern:-X-linked recessivePhysical Effects:-Excessive bleeding from minorcuts-Extensive bruises
    17. 17. MENDELIAN GENETICS AND HUMANS Human genetic disordersColour blindnessInheritance Pattern:-X-linked recessive (red-greenand blue colour defects)-Autosomal recessive (blue-yellow)Physical Effects:-Inability to perceive variouscolours
    18. 18. MENDELIAN GENETICS AND HUMANS Human genetic disordersDuchenne musculardystrophyInheritance Pattern:-X-linked recessivePhysical Effects:-Muscle weakness, delayedmotor development in children-Wheelchair dependence byadolescence-Enlargement and weakeningof the heart

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