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DNALecture 009
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Gregor Mendel
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Rosalind Franklin Frances Crick & James Watson
X-ray diffraction photograph of DNA, 1953
Proposed double helix model 1953
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Cell
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Nucleus
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DNA
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What is DNA?What is DNA?• DNA, or deoxyribonucleic acid, is the genetic
instruction set.
• It is composed of a linear sequence of units called nucleotides.
• There are four different kinds of nucleotides (designated by the letters A, G, C, & T; sometimes called “bases”).
• An individual DNA strand (or chromosome) may consist of 100,000’s of nucleotides.
• The sequence of the nucleotides of a DNA strand determines the genetic code.
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Polymers made up of individual nucleotides
Nucleotides contain• Phosphate group• Five carbon sugar• Ring shaped nitrogen base
DNA contains information for almost all cell activities
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Nitrogen Base
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adenine guanine
Purines
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cytosine thymine
Pyrimidines
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Deoxyribose
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DNA is Double StrandedDNA is Double Stranded
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Base Pairing in DNA
Base Pairing in DNA
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ChromosomesChromosomes
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Chromosomes Come in PairsChromosomes Come in Pairs
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Beliefs about Heredity
Fig. 1. De la propagation du genre humain, ou manuel indispensable pour ceux qui veulent avoir de beaux enfants de l’un ou l’autre sexe (Paris, Year VII). Image courtesy of the Bibliothèque Interuniversitaire de Médecine, Paris.
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Homunculus
How is “heredity passed on:
Spermist vs Ovists
Spermist conception of a
human sperm
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Homunculus
Leeuwenhoek’s black male and white female rabbit experiments: spermist “proof”
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Darwin
What he got right. What he got wrong.
• Acquired characteristics
Ex. Blind cave animals
• Sex. Repro.- gemmules from all over body are packed in sperm and egg
• Blended inheritance
• Likes produce likes• Change can be
permanent• There is no limit to
cumulative change
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Mendel’s Three Principles
• Dominance
• Segregation
• Independent Assortment
The foundation of “classical” scienceThe foundation of “classical” science
(1822-1884)
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• Genes- genetic material on a chromosome that codes for a specific trait
• Genotype- the genetic makeup of the organism
• Phenotype- the expressed trait• Allel- an alternative form of a
gene
Genetic Definitions
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Dominance Mechanism
• Two alleles are carried for each trait
• In true-breeding individuals, both alleles are the same (homozygous).
• Hybrids, on the other hand, have one of each kind of allele (heterozygous).
• One trait is dominant, the other trait is recessive
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Dominance
• Traits of both parents inherited, but one shows over the other
• Traits are not blended
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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 meiosisPairs of alleles are separated (=segregated) during meiosis
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Two different parental characteristics will be inherited independently of one another during gamete formation.
Independent Assortment
Example: flower color and leaf shape
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Complexities
• Multiple genes for one trait
• Example: eye color
• Blended traits (“incomplete dominance”)
• Influence of the environment (UV, smoking, alcoholism)
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Complexities
• Co-dominance-neither allele is recessive and the phenotypes of both alleles are expressed.
• Blood types- AB (not O); sickle cell anemia
heterochromia
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Disorders
Down’s Syndrome (chrom 21)
Huntington’s (chrom 4)
Alzheimer’s (chrom 1, 10, 14, 19, 21)
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Genetic Information
Genes are traits
“Eye color”
Ear lobe connectedness
Genes produce proteins
Enzymes are proteins
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Homologous Chromosomes
allele: specific traitallele: specific trait
gene: locationgene: location
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Allele Example
Gene = “eye color”
Alleles
brownbluegreenlavender
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Allele Examples
appearance
eye color:homozygous
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Allele Examples
appearance
eye color:heterozygous,brown dominant over blue
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Genotype vs Phenotype
homozygous(dominant)
heterozygous
homozygous(recessive)
genotype phenotype
appearanceappearance
Phaner = visible
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Punnett Square
If male & female are heterozygous for eye color
X
brown: 3/4 offspringblue: 1/4 offspring
male
female
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Sickle Cell AnemiaEach parent carries one gene for sickle cell
S s
S sX
S
s
sS
S
S
S
s
s
S
s
s
Possible genotypes: 1SS 2Ss 1ss
Possible phenotypes:no sickle cell sickle cell
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Autosomes and Sex Chromosomes
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Red-Green Color BlindnessSex-linked trait
XC Y
XC Xc
X
XC
Xc
YXC
XC
XC
XC
Y
Xc
XC
Y
Xc
Normal male
Normal female recessive gene
Possible outcomes: XCXC XCXc XCY XcYNormal female
Normal Female(carrier)
Normal male
Color-blind male
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E unconnected earlobee connected earlobeE unconnected earlobee connected earlobe
alleleallele genegene
P EE x ee
gametes E e
F1 Ee
unconnected
connected
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F1 Ee x Ee
gametes1/2 E 1/2 e1/2 E 1/2 e
E
e
E e
EE Ee
Ee ee
F2 1 EE 2 Ee 1 ee
PunnettSquare
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Genotypes Phenotypes
Experiment to determinedominant vs. recessiveExperiment to determinedominant vs. recessive
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Genetic Sleuthing
My eye color phenotype is brown.
What is my genotype?
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Where Does Genetic Diversity Come From?
Where Does Genetic Diversity Come From?
• MutationMutation• Chromosomal AberrationsChromosomal Aberrations• Genetic Recombination Genetic Recombination
(e.g., from sexual (e.g., from sexual reproduction)reproduction)
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mutationmutation
Sickle Cell Mutation
CTG ACT CCT GAG GAG AAG TCTLeu Thr Pro Glu Glu Lys Ser
CTG ACT CCT GAG GTG AAG TCTLeu Thr Pro Glu Val Lys Ser
NORMAL Hb
SICKLE CELL
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Difference between Meiosis and MitosisDifference between Meiosis and Mitosis
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Meiosis IMeiosis I
Interphase Prophase I Metaphase I Anaphase I Telephase I
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Crossing Over of Nonsister Chromatids between Homologous Chromosomes
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Meiosis IIMeiosis II
Prophase II Metaphase II Anaphase II Telephase II
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Genetic Testing
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Genetic Testing
• Predisposition to disease• Alzheimer's case (Feb. 2002)• Amniocentesis & Chorionic villa• Family history• >35 years old• Donor match• Paternity• Forensics
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Gel electrophoresis
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• PCR way of copying specific DNA fragments from small sample DNA material "molecular photocopying"
• It’s fast, inexpensive and simple
Polymerase Chain Reaction
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Genetic Testing
Paternity Test $99
$299, looks at specific diseases
23 and me
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Genetic TestingWould you want to know?
• Ethical concerns• Cost• Insurance companies
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Tongue Roller
R = Tongue Rollerr = Unable to Roll Tongue
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Widow’s Peak
W = Widows Peakw = Lack of Widow’s Peak
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Free Ear Lobe Attached Ear Lobe
E = Free Ear Lobee = Attached Ear Lobe
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Hitchhiker’s Thumb
Hi = Straight Thumbhi = Hitchhiker’s Thumb
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Bent Little Finger
Bf = Bent Little Fingerbf = Straight Little Finger
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Mid-digital Hair
M = Mid-Digital Hairm = Absence of Mid-Digital Hair
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Dimples
D = Dimplesd = Absence of Dimples
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Short Hallux
Ha = Short Halluxha = Long Hallux
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Short Index Finger
Ss = Short Index FingerS1 = Long Index Finger
*Sex-Influenced Trait*Sex-Influenced Trait
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http://www.youtube.com/watch?v=gCPuHzbb5hA
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