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Lecture 29. Inheritance. Importance of genetics. Understanding hereditary diseases and to develop new treatments Donor matches Paternity Forensics Evolution. Genetic Testing. Would you want to know? Ethical concerns Cost Insurance companies see. Difference between Meiosis and Mitosis.
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Lecture 29 Inheritance
Importance of genetics • Understanding hereditary diseases and to develop new treatments • Donor matches • Paternity • Forensics • Evolution
Genetic Testing • Would you want to know? • Ethical concerns • Cost • Insurance companies • see
Meiosis I Interphase Prophase I Metaphase I Anaphase I Telephase I
Crossing Over of Nonsister Chromatids between Homologous Chromosomes
Meiosis II Prophase II Metaphase II Anaphase II Telephase II
Polymerase Chain Reaction PCR is a rapid, inexpensive and simple way of copying specific DNA fragments from minute quantities of source DNA material Three steps are involved in PCR: denaturation, annealing and extension
Genetic Testing $299, looks at specific diseases Paternity Test $99
Homunculus How is “heredity passed on: Spermist vs Ovists Spermist conception of a human sperm
Homunculus Leeuwenhoek’s black male and white female rabbit experiments: spermist “proof”
Mendel’s Three Principles • Dominance • Segregation • Independent Assortment (1822-1884) The foundation of “classical” science
Dominance • Traits of both parents inherited, but one shows over the other • Traits are not blended
Dominance Mechanism • Two alleles are carried for each trait • In true-breeding individuals, both alleles are the same. • Hybrids, on the other hand, have one of each kind of allele. • One trait is dominant, the other trait is recessive
Segregation • Half the gametes (egg or sperm) will carry the traits of one parent and half the traits for the other parent Pairs of alleles are separated (=segregated) during meiosis
Independent Assortment Two different parental characteristics will be inherited independently of one another during gamete formation. Example: flower color and leaf shape
Genetic Information • Genes are traits • “Eye color” • Ear lobe connectedness • Genes produce proteins • Enzymes are proteins
Homologous Chromosomes gene: location allele: specific trait
Allele Example • Gene = “eye color” • Alleles • brown • blue • green • lavender
Allele Examples appearance eye color:homozygous
Allele Examples appearance eye color:heterozygous, brown dominant over blue
Genotype vs Phenotype genotype phenotype homozygous(dominant) heterozygous homozygous (recessive) appearance Phaner = visible
Punnett Square If male & female are heterozygous for eye color male female X brown: 3/4 offspring blue: 1/4 offspring
PKU Each parent carries one gene for PKU. P p P P P P p P p X P p P p p p p Possible genotypes: 1PP 2Pp 1pp Possible phenotypes:no PKU PKU
Compare this to what would have happened if one parent was homozygous for sickle cell. HbA HbA HbA HbA HbS HbA HbA HbS HbS X HbA HbA HbS HbS HbS HbS HbS all offspring are carriers of sickle cell trait
Red-Green Color Blindness Sex-linked trait XC Y XC Y XC XC XC Normal male XC Y X XC Xc XC Xc Xc Xc Y Normal female recessive gene Possible outcomes: XCXC XCXc XCY XcY Normal female Normal Female (carrier) Normal male Color-blind male
Dominance Most traits show complete dominance Blending unexpected
allele gene E unconnected earlobe e connected earlobe P EE x ee E e gametes F1 Ee
F1 Ee x Ee 1/2 E 1/2 e1/2 E 1/2 e gametes E e E EE Ee PunnettSquare e Ee ee F2 1 EE 2 Ee 1 ee
generation genotypes unconnected E:e P EE, ee 50% 1:1 F1 Ee 100% 1:1 F2 EE, 2 Ee, ee 75% 1:1 phenotypes ratio of alleles in the population Basis of the Castle-Hardy-Weinberg Law
Genotypes Phenotypes Experiment to determinedominant vs. recessive
Genetic Sleuthing My eye color phenotype is brown. What is my genotype?
Pedigree phenotypes infer genotypes Alternative: look directly at the DNA
Complexities • Multiple genes for one trait • Example: eye color • Blended traits (“incomplete dominance”) • Influence of the environment
Disorders Down’s Syndrome (chrom 21) Alzheimer’s (chrom 1, 10, 14, 19, 21) Huntington’s (chrom 4)
Tongue Roller R = Tongue Rollerr = Unable to Roll Tongue
Widow’s Peak W = Widows Peakw = Lack of Widow’s Peak
Attached Ear Lobe Free Ear Lobe E = Free Ear Lobee = Attached Ear Lobe
Hitchhiker’s Thumb Hi = Straight Thumbhi = Hitchhiker’s Thumb
Bent Little Finger Bf = Bent Little Fingerbf = Straight Little Finger
Mid-digital Hair M = Mid-Digital Hairm = Absence of Mid-Digital Hair
Dimples D = Dimplesd = Absence of Dimples
Short Hallux Ha = Short Halluxha = Long Hallux
Short Index Finger Ss = Short Index FingerS1 = Long Index Finger *Sex-Influenced Trait