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Biology 2250Biology 2250Principles of GeneticsPrinciples of Genetics
AnnouncementsAnnouncements
Lab 3 Information: B2250 (Innes) webpageLab 3 Information: B2250 (Innes) webpage
download and print before lab.download and print before lab.
Virtual fly: log in and practiceVirtual fly: log in and practice
http://biologylab.awlonline.com/http://biologylab.awlonline.com/
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Weekly Online QuizzesWeekly Online Quizzes
Marks Marks Oct. 14 - Oct. 22 Example Quiz 2** Oct. 14 - Oct. 22 Example Quiz 2** for logging in for logging in
Oct. 21- Oct. 24 Quiz 1 2Oct. 21- Oct. 24 Quiz 1 2
Oct. 28 Quiz 2 2Oct. 28 Quiz 2 2
Nov. 4 Quiz 3 2Nov. 4 Quiz 3 2
Nov. 10 Quiz 4 2Nov. 10 Quiz 4 2
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B2250B2250Readings and ProblemsReadings and Problems
Ch. 4 p. 100 – 112 Prob: 10, 11, 12, 18, 19Ch. 4 p. 100 – 112 Prob: 10, 11, 12, 18, 19
Ch. 5 p. 118 – 129 Prob: 1 – 3, 5, 6, 7, 8, 9Ch. 5 p. 118 – 129 Prob: 1 – 3, 5, 6, 7, 8, 9
Ch. 6 p. 148 – 165 Prob: 1, 2, 3, 10Ch. 6 p. 148 – 165 Prob: 1, 2, 3, 10
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Mendelian GeneticsMendelian Genetics
Topics:Topics: -Transmission of DNA during cell division-Transmission of DNA during cell division
Mitosis and MeiosisMitosis and Meiosis
- Segregation - Segregation
- Sex linkage (- Sex linkage (problem: how to get a white-eyed femaleproblem: how to get a white-eyed female))
- Inheritance and probability - Inheritance and probability
- Independent Assortment- Independent Assortment
- Mendelian genetics in humans- Mendelian genetics in humans - Linkage- Linkage
- Gene mapping- Gene mapping
- Tetrad Analysis (mapping in fungi)- Tetrad Analysis (mapping in fungi)
- Extensions to Mendelian Genetics- Extensions to Mendelian Genetics
- Gene mutation- Gene mutation
- Chromosome mutation- Chromosome mutation
- Quantitative and population genetics- Quantitative and population genetics
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Sex-linked InheritanceSex-linked Inheritance
Correlation between inheritanceCorrelation between inheritance
of genes and sexof genes and sex
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Drosophila melanogasterDrosophila melanogaster(T. H. Morgan)(T. H. Morgan)
XX
Red eyeRed eye(wild)(wild)
White eyeWhite eye(mutant)(mutant)
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Red Eye White eyeRed Eye White eyeDrosophilaDrosophila
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Cross ACross A
red female red female X X white malewhite male
FF11 all red all red
FF22 red : white red : white
3 : 13 : 1
white all malewhite all male
red 2 : 1 female : malered 2 : 1 female : maleNo white-eyed females
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Cross BCross B
white female white female X X red malered male
FF11 females males females males
FF22 females males females males
1 : 1 : 1 : 11 : 1 : 1 : 1
How to obtain a white-eyed female?
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Cross ACross A
ww++ww++ X X wY wY
FF11 ww ww++ w w++YY
wwww+ + X X wYwY
w Yw Y
w ww wYw ww wY
ww+ + wwww++ w w++YY
XXw+w+XXw+w+ XXww Y Y
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Mendelian Mendelian InheritanceInheritance
Determining mode of inheritanceDetermining mode of inheritance::
- single gene or more complicated- single gene or more complicated
- recessive or dominant- recessive or dominant
- sex linked or autosomal- sex linked or autosomal
Approach: cross parents Approach: cross parents
observed progenyobserved progeny
compare with expectedcompare with expected
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Principle of SegregationPrinciple of SegregationImplicationsImplications
Answer questions on inheritance:Answer questions on inheritance:
- mode of inheritance (dominant, recessive- mode of inheritance (dominant, recessive
sex-linked)sex-linked)
- paternity- paternity
- hybridization- hybridization
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Equal segregation of two members of a gene pairEqual segregation of two members of a gene pair
AaAa½ A gametes½ A gametes
½ a gametes½ a gametes
P(a) = ½P(a) = ½P(A) = ½ P(A) = ½
Meiosis:Meiosis:
diploiddiploid nucleus divides nucleus divides
produces produces haploidhaploid nuclei nuclei
Mendel’s First LawMendel’s First Law
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Rules of ProbabilityRules of Probability
1.1. Product rule (Product rule (ANDAND):):
probability of 2 probability of 2 independentindependent events occurring events occurring
simultaneouslysimultaneously
2. Sum Rule (2. Sum Rule (OROR):):
probability of either one of two mutuallyprobability of either one of two mutually
exclusive eventsexclusive events
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ProbabilityProbability
1.1. **Coin toss: **Coin toss: P (T) = P(H) = 1/2 P (T) = P(H) = 1/2
P(T, T, T) = P(T) P(T, T, T) = P(T) andand P(T) P(T) andand P(T) P(T)
= (½)= (½)33 = ½ x ½ x ½ = ½ x ½ x ½
2. One die: P (6) 2. One die: P (6) oror P (5) = 1/6 + 1/6 P (5) = 1/6 + 1/6
****http://shazam.econ.ubc.ca/flip/
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FF22
Self FSelf F11 AaAa X X AaAa
1/2 1/2 AA 1/2 1/2 aa
1/2 1/2 AA 1/4 1/4 AAAA 1/4 1/4 Aa Aa P(AA) = ½ * ½ P(AA) = ½ * ½
1/2 1/2 aa 1/4 1/4 AaAa 1/4 1/4 aaaa
Prob. (AA Prob. (AA oror Aa) = 1/4 + 2/4 = ¾ Aa) = 1/4 + 2/4 = ¾
Prob. (aa) = ¼ Prob. (aa) = ¼
equalequal
SegregationSegregation
P(A) = ½P(A) = ½
P(a) = ½ P(a) = ½
eggseggs
spermsperm
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Two CharactersTwo Characters
Monohybrid CrossMonohybrid Cross
parents differ for a single character parents differ for a single character
(single gene ); seed shape(single gene ); seed shape
Dihybrid CrossDihybrid Cross
parents differ for two characteristics parents differ for two characteristics
(two genes)(two genes)
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DihybridDihybrid
Two CharactersTwo Characters::
1. Seed colour 1. Seed colour yellowyellow greengreen
YY yy
2. Seed shape Round wrinkled2. Seed shape Round wrinkled
RR rr
4 phenotypes4 phenotypes
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DihybridDihybrid
RRyy X rrYYRRyy X rrYY
Ry rYRy rY
RrYy DIHYBRIDRrYy DIHYBRID
PP
FF11
GametesGametes
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FF11 Dihybrid ----->F Dihybrid ----->F22
FF11 RrYy RrYy
RrYy X RrYyRrYy X RrYy
FF22 9 315 round, yello 9 315 round, yelloww
3 108 round, green3 108 round, green
3 101 wrinkled, yellow3 101 wrinkled, yellow
1 32 wrinkled, green 1 32 wrinkled, green
Total Total 556556
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Individual CharactersIndividual Characters
1. Seed shape round : wrinkled1. Seed shape round : wrinkled
423 : 133423 : 133
3 : 13 : 1 (¾ : ¼) (¾ : ¼)
2. Seed colour yellow : green2. Seed colour yellow : green
416 : 140416 : 140
3 : 13 : 1
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ConclusionConclusion
* * 3 : 13 : 1 monohybrid ratio for each character monohybrid ratio for each character
* * 9 : 3 : 3 : 19 : 3 : 3 : 1 phenotypic ratio a random phenotypic ratio a random
combination of 2 combination of 2 independentindependent 3:1 ratios 3:1 ratios
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Two Independent GenesTwo Independent Genes
FF22 seed shape seed shape
3/4 1/43/4 1/4
colour round wrinkledcolour round wrinkled
yellow 3/4 9/16 3/16yellow 3/4 9/16 3/16
green 1/4 3/16 1/16green 1/4 3/16 1/16
FF22 Phenotypes Phenotypes
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Applying Probability to Applying Probability to GeneticsGenetics
Dihybrid: Dihybrid: RrYyRrYy
Hypothesis: Hypothesis:
mechanism for putting mechanism for putting RR or or r r into a gamete is into a gamete is independentindependent of the mechanism for putting of the mechanism for putting YY or or yy into a gamete into a gamete
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Gametes from DihybridGametes from Dihybrid
Dihybrid: Dihybrid: RrYy (FRrYy (F11))
Principle of segregation during gamete Principle of segregation during gamete formation:formation:
YyYy -------> P( -------> P(YY) = P() = P(yy) = 1/2) = 1/2
RrRr ------->P( ------->P(RR) = P() = P(rr) = 1/2) = 1/2
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Gametes from dihybridGametes from dihybrid
RrYyRrYy : :
probabilityprobability
YY and and RR 1/2 * 1/2 = ¼ 1/2 * 1/2 = ¼ YR YR
YY and and rr 1/2 * 1/2 = ¼ 1/2 * 1/2 = ¼ Yr Yr
yy and and RR 1/2 * 1/2 = ¼ 1/2 * 1/2 = ¼ yR yR
yy and and rr 1/2 * 1/2 = ¼ 1/2 * 1/2 = ¼ yr yr
4 gamete types4 gamete types
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FF11 gametes produce F gametes produce F22
YyRr X YyRrYyRr X YyRr
¼ ¼ YR YR Yr Yr yR yR yr yr
¼ ¼ YRYR 1/16 RRYY1/16 RRYY
YrYr
yRyR
yryr
FF11
FF22gametesgametes
gametesgametes
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Fig. 6-7Fig. 6-7
FF22
4 Gametes4 Gametes
9 Genotypes9 Genotypes
4 Phenotypes4 Phenotypes
SpermSperm
EggsEggsFF22
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Mendel’s Second LawMendel’s Second Law
Independent assortment:Independent assortment:
during gamete formation, the segregation of during gamete formation, the segregation of one gene pair is one gene pair is independentindependent of other gene of other gene pairs.pairs.
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AA
aa
BB
bb
AA
aa
bb
BB
Meiosis IMeiosis I
OROR
(Genes)(Genes)
Correlation of genes andCorrelation of genes andChromosomes duringChromosomes duringMeiosis IMeiosis I
AA
aa
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Producing the Producing the FF22
YyRr X YyRrYyRr X YyRr
1. F1. F11 Gametes Gametes produce F produce F22
2. Genotypes2. Genotypes
3. Phenotypes3. Phenotypes
FF11
FF22
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Independent AssortmentIndependent Assortment
Two gene systems:Two gene systems:
1. Gametes from dihybrid 4 x 4 = 161. Gametes from dihybrid 4 x 4 = 16
YyRr:YyRr:
¼ ¼ YR YR Yr Yr yR yR yr yr
¼ ¼ YRYR 1/16YYRR1/16YYRR
YrYr
yRyR
yryr
Male gametesMale gametes
Female Female gametesgametes FF22
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Independent AssortmentIndependent Assortment
2. F2. F2 2 Genotypes 3 x 3 = 9Genotypes 3 x 3 = 9
¼ ¼ RR RR ½ ½ Rr Rr ¼ ¼ rrrr
¼ ¼ YYYY 1/16 YYRR1/16 YYRR
½ ½ Yy Yy
¼ ¼ yy yy
FF22
YyRr X YyRrYyRr X YyRr
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Independent AssortmentIndependent Assortment
3. F3. F22 Phenotypes 2 x 2 = 4 Phenotypes 2 x 2 = 4
¾ ¾ R- R- ¼ ¼ rrrr
¾ ¾ Y-Y- 9/16 9/16 R-Y-R-Y-
¼ ¼ yy yy
YyRr X YyRrYyRr X YyRr
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F1
9 Genotypes 4 phenotypes
YY RRYY RR
YY RrYY RrYy RRYy RR
Yy RrYy Rr
YY rrYY rr
Yy rrYy rr
yy RRyy RR
yy Rryy Rr
yy rryy rr
YyRr x YyRrYyRr x YyRr
Y-R-
Y-rr
yyR-
yyrr
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Independent AssortmentIndependent Assortment
FF11 AaBb X AaBb AaBb X AaBb
FF22 9 A-B- 9 A-B-
3 A-bb3 A-bb
3 aaB-3 aaB-
1 aabb1 aabb
4 phenotypes4 phenotypes
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Independent Assortment Independent Assortment Test CrossTest Cross
AaBb X AaBb X aabbaabb
gametes gametes abab
1/4 AB A1/4 AB AaaBBbb
1/4 Ab A1/4 Ab Aaabbbb
1/4 aB a1/4 aB aaaBBbb
1/4 ab a1/4 ab aaabbbb
4 phenotypes4 phenotypes
4 genotypes4 genotypes
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Fig 6-6Fig 6-6
Independent AssortmentIndependent Assortment
Interchromosomal RecombinationInterchromosomal Recombination
ABAB
abab
AbAb
aBaB
Inferred F1 gamete types
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Independent AssortmentIndependent Assortment
Any number of independent genes:Any number of independent genes:
Genes Phenotypes GenotypesGenes Phenotypes Genotypes
1 2 31 2 3
2 4 92 4 9
3 8 273 8 27
n 2n 2nn 3 3nn
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Mendelian Genetics Mendelian Genetics in Humansin Humans
Determining mode of inheritanceDetermining mode of inheritance
Problems:Problems:
1. long generation time1. long generation time
2. can not control mating2. can not control mating
Alternative:Alternative:
* information from matings that have * information from matings that have already occurred “already occurred “PedigreePedigree” ”
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Human PedigreesHuman Pedigrees
Pedigree analysis:Pedigree analysis:
• trace inheritance of disease or conditiontrace inheritance of disease or condition
• provide clues for mode of inheritanceprovide clues for mode of inheritance
((dominantdominant vs. vs. recessiverecessive))
((autosomal autosomal vs.vs. sex linked sex linked))
• however, some pedigrees ambiguoushowever, some pedigrees ambiguous
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Human PedigreesHuman Pedigrees
1. Ambiguous: 2. Unambiguous:1. Ambiguous: 2. Unambiguous:
AffectedAffectedfemalefemale
NormalNormalmalemale
NormalNormalfemalefemale
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Clues (non sexClues (non sex--linked)linked)
RecessiveRecessive::
1. individual expressing trait has two1. individual expressing trait has two
normal parentsnormal parents
2. two affected parents can not have an2. two affected parents can not have an
unaffected child.unaffected child.
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Rare RecessiveRare Recessive
A-A-(AA or Aa)(AA or Aa)
CousinsCousins(inbreeding)(inbreeding)
Rare = AARare = AA
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CluesCluesDominant:Dominant:
1. every affected person has at least one1. every affected person has at least one
affected parentaffected parent
2. each generation will have affected2. each generation will have affected
individualsindividuals
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DominantDominant
All genotypes knownAll genotypes knownNot AANot AA
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ExamplesExamplesRecessive:Recessive:
- phenylketonuria (PKU)- phenylketonuria (PKU)
- hemophilia- hemophilia (sex linked) (sex linked)
- cystic fibrosis- cystic fibrosis
- albinism- albinism
Dominant:Dominant:
- huntingtons chorea- huntingtons chorea
- brachydactyly (short fingers)- brachydactyly (short fingers)
- polydactyly (extra fingers)- polydactyly (extra fingers)
- achondroblasia (dwarf)- achondroblasia (dwarf)
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http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM
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BrachydactylyBrachydactyly
Bb short fingersBb short fingersbb normalbb normal
BbBb bbbb
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http://www.biology.http://www.biology.arizonaarizona..eduedu//mendelianmendelian_genetics/_genetics/mendelianmendelian_genetics.html_genetics.html
Online Tutorial:
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Solving Genetics ProblemsSolving Genetics Problems
1.1. Don’t panic!Don’t panic!
2.2. Carefully read the problemCarefully read the problem
3.3. What information is given? Know What information is given? Know the terms used.the terms used.
4.4. What aspect of genetics does the What aspect of genetics does the problem address?problem address?
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X-linked DominantX-linked Dominant
1. affected male ---> all daughters affected1. affected male ---> all daughters affected
no sonsno sons
aa x AY ----> Aa, aYaa x AY ----> Aa, aY
2. affected female ----> 2. affected female ----> ½ ½ sons, sons, ½ ½ daughtersdaughters
affectedaffected
Aa x aY ----> AY, aY, aa, AaAa x aY ----> AY, aY, aa, Aa
* ** *
Sex Linked InheritanceSex Linked Inheritance
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X-Linked DominantX-Linked Dominant
1.1.
2.2.
All daughters affected, no sons
1/2 daughters affected, 1/2 sons affected
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X-linked InheritanceX-linked Inheritance
X-linked recessiveX-linked recessive::
1. more males than females show1. more males than females show
recessive phenotyperecessive phenotype
2. affected female ------> both mother2. affected female ------> both mother
and father have recessive alleleand father have recessive allele
A a x a Y --------> a aA a x a Y --------> a a
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X-linked InheritanceX-linked Inheritance
X-linked recessiveX-linked recessive::
3. affected male ----> mother carries allele3. affected male ----> mother carries allele
A a x AY -----> a YA a x AY -----> a Y
4. affected male -----> no affected offspring4. affected male -----> no affected offspring
AA x a Y ----> AY, AaAA x a Y ----> AY, Aacarrier
carrier
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X-Linked RecessiveX-Linked Recessive
MotherMothercarriercarrier
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Sex Linked InheritanceSex Linked Inheritance(examples)(examples)
X linked genesX linked genes
Humans: - Humans: - colour blindnesscolour blindness
- - hemophiliahemophilia
• More common in males (More common in males (hemizygous hemizygous aY)aY)
• X linked recessives expressedX linked recessives expressed
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X-linked recessive hemophilia
Queen Victoria (carrier)
QE II Hemophilic male
Carrier female
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X – linked disease genesX – linked disease genes
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Mendelian GeneticsMendelian Genetics
Topics:Topics:
-Transmission of DNA during cell division-Transmission of DNA during cell division
Mitosis and MeiosisMitosis and Meiosis
- Segregation (Monohybrid)- Segregation (Monohybrid)
- Sex linkage- Sex linkage
- Inheritance and probability - Inheritance and probability
- Independent Assortment (Dihybrid)- Independent Assortment (Dihybrid)
- Mendelian genetics in humans (Pedigree)- Mendelian genetics in humans (Pedigree)