where a heterozygote has a phenotype intermediate between the corresponding homozygote phenotypes
TRANSCRIPT
Where a heterozygote has a phenotype intermediate between the corresponding homozygote phenotypes
Incomplete or Partial Dominance involving Flower Color in Snapdragons
R1R1 x R2R2 Red White
R1R2 x R1R2
Pink Pink
R1R1 R1R2 R2R2
1/4 Red 1/2 Pink 1/4 White
• genotypic and phenotypic ratios are the same (1:2:1)
codominance - where the heterozygote shows the phenotype of both alleles equally
Multiple Alleles & Codominance
ABO Blood Groups
Discoverer -- Landsteiner (1900-1901)Group A, B, O, AB
Genetic Explanation -- Bernstein (1924)Series of multiple allelesIA, IB, IO (i)
…O recessive, A and B alleles codominant
• the A and B alleles make a different version of the same protein with a slightly different function
Molecular basis of ABO alleles
• fucose added to H-substance precursor
• product of A allele adds N-acetylgalactosamine
• product of B allele adds galactose
• both molecules (A and B) can be expressed on cell surfaceat the same time
• in OO individuals H substance is not modified
type A
type B type O
type AB
Red blood cell antigens
A antigen A and B antigen
B antigen H antigen(no A or B antigen)
IAIA
IAIO
Blood GroupA 41% A Anti-B
IBIB
IBIO
Blood GroupB 10% B Anti-A
IOIO
Blood GroupO 45% Neither
Anti-AAnti-B
IAIB
Blood Group AB 4% Both Neither
Genotype Phenotype Frequency Antigen
Antibodyin
Serum
Note: Caucasian frequencies given. Frequencies differ with population.
Legal Applications of Blood Groups
Hospital Cases -- Babies mixed up
Father - O Baby 1 - BMother - A Baby 2 - O
IAIA or IAIO x IOIO
IBIB or IBIO impossible, but IOIO possible;therefore baby #2 belongs to these parents
Blood tests can be used to rule out paternity
Charlie Chaplin Joan BarryO=IOIO x A=IAIO
Caroline B= IBIO
Caroline is not Charlie Chaplin’sdaughter.
Rh Blood Group
Landsteiner and Weiner (1940)
Rhesus Monkey BloodInjected into Rabbit
Extract serum from rabbit. Find that rabbit containsanti-Rh antibodies.
Test in Man Phenotype Genotype
1) 85% Agglutination (+) Rh+ RR or Rr2) 15% Non-Agglutination (-) Rh- rr
Rh Blood Group Alleles
Multiple AllelesWeiner
R1
R2
R0
Rz
rrl
rll
ry
Closely Linked LociFisher-Race
CDecDEcDeCDEcdeCdecdECdE
• Weiner - One complex locus, 8 different alleles
• Fisher-Race - Three separate loci; simple alleles, D allele most
important; D = Rh+; dd = Rh-
• C and E loci may effect expression of Rh phenotype
Rh+
Rh-
Rh Incompatibility
Rh- x Rh+
rr RR
Affected(Erythroblastosis fetalis)
all offspring Rr
Explanation for Rh Incompatibility• Mother Rh-, lacks Rh antigen on blood cell surfaces
• Seepage of blood from 1st born into mother’s blood stream from trauma of birth
• Mother’s immune system interprets entering Rh antigens as foreign protein to be eliminated
• Offspring heterozygous Rr; produce Rh antigen on red blood cell surface
• Mother builds up antibody against Rh antigen after birth of 1st child; takes time to build antibody; 1st child spared
• Rh antibody is IgG class and can pass across placenta and enter blood stream of fetus 2, 3 & 4
• Mother’s antibodies destroy fetus red blood cells; results in erythroblastosis fetalis
• Expected frequency is 10% of all pregnancies but observed at frequency of 1/200….C and E loci may modify immune response
• mice can have agouti (silver gray) or yellow coat color
• yellow allele dominant to agouti allele
• homozygotes for the yellow allele (AY) do not survive embryonic development
• F1 phenotypic ratio distorted (2:1)due to presence of lethal allele
• yellow allele dominant with respectto coat color but recessive with respect to embryonic development
• genes can be multi-functional
An interaction between genes such that a mutation in one gene masks the expression of the phenotype of another gene.
recessive epistasis
mouse coat color A_ = agouti aa = black
In a cross thought to be Aa x Aa see 9 agouti : 3 black : 4 albino.
Modified dihybrid ratio implies 2 genes involved (9:4:3 is typical recessive epistatic ratio if 2 genes determine character)
Can explain results if cross is actually AaBb x AaBb
9 A_B_ agouti3 A_bb albino3 aaB_ black1 aabb albino
gene B gene A
b is epistatic to A or a.
bb aa
• B allele required to depositpigment; A allele required to modify pigment pattern
precursor black agouti pattern
white yellow green
dominant epistasis
squash color A_ = white aa = yellow
In a cross thought to be Aa x Aa see 12 white : 3 yellow : 1 green.
Modified dihybrid ratio implies 2 genes involved (12:3:1 is typical dominant epistatic ratio if 2 genes determine character)
Can explain results if cross is actually AaBb x AaBb
9 A_B_ white3 A_bb white3 aaB_ yellow1 aabb green
gene a (aa) gene b (bb)
A is epistatic to B or b.
A_ B_
•a allele required to make yellow pigment; b allele required to convert yellow to green
• O type woman found to be incompatible with type O bloodprior to transfusion
• based on blood typing of parents could not be type O
• clearly passed on B alleles to two of her children
type A
type B type O
type AB
Red blood cell antigens
A antigen A and B antigen
B antigen H antigen(no A or B antigen)
hh IBIO x HH IAIO
Hh IAIO or Hh IBIO or Hh IAIB
Explanation
If genotype is hh conversion does not occur and anti-H is madein serum….reacts with O-type blood cells which have H antigen
h is epistatic to the A or B alleles
condition in which a single mutation in one gene simultaneously affects several characters
Examples of pleiotropy
White eye gene in Drosophila• eye color white• flight muscles defective
Albinism in humans• lack of pigment• eye sight can be affected• hearing can be affected
Hormones produced in pituitarygland required throughout body
interactions between two or more genes, each with an additive effect on the character
Kolreuter’s Tobacco Plants
Dwarf Population
Tall Population
Height
Freq
Intermediate Height
F1
Height
Freq.
Freq.
Height
F2
Continuous Variation
Explanation of Kolreuter’s Results
Parents AABB X aabb
6 feet 2 feet
F1 AaBb X AaBb
AABB AABb AaBB AaBb
AABb AAbb AaBb Aabb
AaBB AaBb aaBB aaBb
AaBb Aabb aaBb aabb
AB
Ab
aB
ab
F2 AB Ab aB ab
•Residual = 2ft
•A = B = 1 ft added
•a = b = 0 ft added (non-additive alleles)
Polygenic Inheritance F2 Results
Genotypes Phenotypes Frequency
AABB 6 feet tall 1
AABb 5 feet tall 2
AaBB 5 feet tall 2
AAbb 4 feet tall 1
AaBb 4 feet tall 4
aaBB 4 feet tall 1
Aabb 3 feet tall 2
aaBb 3 feet tall 2
aabb 2 feet tall 1
1
4
6
4
1
Calculating the number of genes involved in determining a polygenic character.
The number of possible different F2 phenotypes = 2n+1
n = the number of heterozygous gene pairs determining the character
We know that all genes pairs in the F1 cross are heterozygous because we start the parental cross withpure breeding lines.
sex chromosome - a chromosome whose presence or absence is correlated with the sex of the bearer,
or, a chromosome that plays a role in sex determination
autosome - any chromosome that is not a sex chromosome
I. Pattern Baldness
Sex-influenced trait: Autosomal trait expressed as a dominant in one sex and as a recessive in the other.
Sex-Influenced Trait Inheritance Pattern
BBBB pattern
baldness
X BNBN
non- bald
BBBN pattern
baldness
BBBN non-bald
X
B allele is dominant in males andrecessive in females.
N allele is dominant in females andrecessive in males.
Pattern Baldness F2 Summary
Genotype Phenotype
Males Females
1 BBBB Bald Bald
2 BBBN Bald Non-Bald
1 BNBN Non-Bald Non-Bald
Sex Influenced Trait
II. 2nd Finger Shorter than 4th
SSSS shorter
X SLSL
longer
SSSL shorter
SSSL longer
X
2nd Finger Shorter than 4th F2 Summary
Genotypes Phenotypes
Males Females
1 SSSS Shorter Shorter
2 SSSL Shorter Longer
1 SLSL Longer Longer
Sex-limited Trait: Autosomal trait expressed in one sex only.
Cock and Hen Feathering in Chickens
Hamburgh rooster (cock feathering)
Sebright hen (hen feathering)
cock feathers: curved and pointedhen feathers: shorter and rounded
phenotype controlled by single gene, h
hh X h+h+
h+h h+hX
cock feathers
hen feathers
hen feathers
hen feathers
Feathering in Chickens F2 Summary
Genotype Phenotype
Males Females
1 h+h+ hen hen
2 h+h hen hen
1 hh cock hen
Leghorn chickens all hh - males always different Sebright bantams all h+ h+ - males/females have same feathers