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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


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Importance of genetics

  • Understanding hereditary diseases and to develop new treatments

  • Donor matches

  • Paternity

  • Forensics

  • Evolution


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Genetic Testing

  • Would you want to know?

  • Ethical concerns

  • Cost

  • Insurance companies

  • see



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Meiosis I

Interphase

Prophase I

Metaphase I

Anaphase I

Telephase I



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Meiosis II Chromosomes

Prophase II

Metaphase II

Anaphase II

Telephase II


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Genetic Testing Chromosomes


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Gel electrophoresis Chromosomes


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Polymerase Chain Reaction Chromosomes

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


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Genetic Testing Chromosomes

$299, looks at specific diseases

Paternity Test $99


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Homunculus Chromosomes

How is “heredity passed on:

Spermist vs Ovists

Spermist conception of a human sperm


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Homunculus Chromosomes

Leeuwenhoek’s black male and white female rabbit experiments: spermist “proof”


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(1822-1884)

The foundation of “classical” science


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  • Dominance Chromosomes

  • Traits of both parents inherited, but one shows over the other

  • Traits are not blended


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  • Dominance Mechanism Chromosomes

  • 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


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  • Segregation Chromosomes

  • 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


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Independent Assortment Chromosomes

Two different parental characteristics will be inherited independently of one another during gamete formation.

Example: flower color and leaf shape


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Genetic Information Chromosomes

  • Genes are traits

    • “Eye color”

    • Ear lobe connectedness

  • Genes produce proteins

    • Enzymes are proteins


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Homologous Chromosomes Chromosomes

gene: location

allele: specific trait


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Allele Example Chromosomes

  • Gene = “eye color”

  • Alleles

    • brown

    • blue

    • green

    • lavender


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Allele Examples Chromosomes

appearance

eye color:homozygous


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Allele Examples Chromosomes

appearance

eye color:heterozygous,

brown dominant over blue


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Genotype vs Phenotype Chromosomes

genotype phenotype

homozygous(dominant)

heterozygous

homozygous

(recessive)

appearance

Phaner = visible


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Punnett Square Chromosomes

If male & female are heterozygous for eye color

male

female

X

brown: 3/4 offspring

blue: 1/4 offspring


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PKU Chromosomes

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


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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


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Autosomes and Sex Chromosomes homozygous for sickle cell.


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Red homozygous for sickle cell.-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


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Dominance homozygous for sickle cell.

Most traits show complete dominance

Blending unexpected


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allele homozygous for sickle cell.

gene

E unconnected earlobe

e connected earlobe

P

EE x ee

E e

gametes

F1

Ee


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F homozygous for sickle cell.1

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


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generation genotypes unconnected E:e homozygous for sickle cell.

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


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Genotypes Phenotypes homozygous for sickle cell.

Experiment to determinedominant vs. recessive


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Genetic Sleuthing homozygous for sickle cell.

My eye color phenotype is brown.

What is my genotype?


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Pedigree homozygous for sickle cell.

phenotypes

infer genotypes

Alternative:

look directly at the DNA


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Complexities homozygous for sickle cell.

  • Multiple genes for one trait

    • Example: eye color

  • Blended traits (“incomplete dominance”)

  • Influence of the environment


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Disorders homozygous for sickle cell.

Down’s Syndrome (chrom 21)

Alzheimer’s (chrom 1, 10, 14, 19, 21)

Huntington’s (chrom 4)


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Human Genetic Traits homozygous for sickle cell.


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Tongue Roller homozygous for sickle cell.

R = Tongue Rollerr = Unable to Roll Tongue


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Widow’s Peak homozygous for sickle cell.

W = Widows Peakw = Lack of Widow’s Peak


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Attached Ear Lobe homozygous for sickle cell.

Free Ear Lobe

E = Free Ear Lobee = Attached Ear Lobe


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Hitchhiker’s Thumb homozygous for sickle cell.

Hi = Straight Thumbhi = Hitchhiker’s Thumb


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Bent Little Finger homozygous for sickle cell.

Bf = Bent Little Fingerbf = Straight Little Finger


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Mid-digital Hair homozygous for sickle cell.

M = Mid-Digital Hairm = Absence of Mid-Digital Hair


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Dimples homozygous for sickle cell.

D = Dimplesd = Absence of Dimples


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Short Hallux homozygous for sickle cell.

Ha = Short Halluxha = Long Hallux


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Short Index Finger homozygous for sickle cell.

Ss = Short Index FingerS1 = Long Index Finger

*Sex-Influenced Trait


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http://www.youtube.com/watch?v=gCPuHzbb5hA homozygous for sickle cell.


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