Genetics

THE STUDY OF HEREDITYLH – Winter 2011

Genetics

Gregor Mendel

The scientific study of heredity is called GENETICS!

Augustinian MonkBegan working on pea plants in his

monasteryCorrectly believed that heritable factors (genes) retain their individuality from generation to generation

i.e. – marbles

Why Pea Plants?

Mendel chose to study garden peas, because: They reproduce quickly & have a short life cycle They have seven distinct & observable traits They produce many offspring in one cross Ease in manipulating pollination

Self-fertilization vs. Cross Pollination

Mendel produced seeds by cross pollinatingNote: Since pea plants can self-pollinate, they are called true-breeding. This means they will produce offspring

identical to themselves.

Pea Plant Characteristics

Mendel (con’d)

Mendel worked with his pea plants until he was sure that all were true-breeding varieties

He could finally begin his studies: What would happen if different characteristics were crossed? Purple flower x White flower?

Hybrid the offspring of two different varieties (also called a monohybrid cross)

P generation (P1) parental generation have offspring called the F1 generation

If F1 generations cross, their offspring are called the F2 generation

P F1 F2

Mendel’s Experiments

After studying pea plants, Mendel concluded that: Traits are passed from one generation to the next

through genes. Each trait is controlled by a different form of a gene

called an allele Some alleles are dominant to others called recessive

traits

New question: Have the recessive alleles disappeared or are they still present in the parents?

Mendel’s Experiments

Mendel crossed the first generation and saw that the recessive trait showed up in about 1 of 4 plants.

Conclusion: Law of Segregation! Segregation of the alleles happens during the formation of gametes. Each gamete will carry one form of the allele.

Using Probability to Predict Offspring

Punnett square – a diagram that shows the gene combinations that might result from a genetic cross of two parents

Phenotype – a description of what an individual LOOKS like (tall, red)

Genotype – a description of the genetic make-up of an individual (TT, Rr)

Important Vocabulary

Dominant – allele that appears more frequently. It masks the recessive. Represented by a capitol letter (R=red)

Recessive – allele that appears less frequently (b/c it is repressed when paired with a dominant allele) Represented by a lower case letter (r=white)

AA – HOMOZYGOUS dominantaa – homozygous recessiveAa – HETEROZYGOUS one of each allele

Homozygous – two identical alleles for a traitHeterozygous – two different alleles for a trait

LH BIOLOGYWINTER 2011

Solving Punnett Squares

Punnett squaresStep 1

R = roundr = wrinkled

STEP 1 Define the alleles

If a homozygous round pea plant is crossed with a heterozygous round pea plant, what will their offspring look like?

Step 2

Define the parents

RR x Rr

If a homozygous round pea plant is crossed with a heterozygous round pea plant, what will their offspring look like?

Step 3Draw the Punnett square

R R

R

r

Step 4

RR RR

Rr Rr

R R

R

r

Cross the parents find the probability of offspring

Step 5

RR RR

Rr Rr

R R

R

r

Genotype: genetic make-up (letters)

Phenotype: physical characteristics

Find the genotype and phenotype of the offspring

Finished Product

RR RR

Rr Rr

R R

R

r

Genotype ratio: 2 RR: 2Rr

Phenotype ratio: 100% Round

R=roundR=wrinkled

RR x Rr

Dihybrid Crosses

Dihybrid Cross – a cross of parents differing in TWO characteristics For example: homozygous round, yellow x

homozygous wrinkled, green seeds RRYY x rryy

Law of Independent Assortment – each pair of alleles for different traits segregate independently of other pairs of alleles during gamete formation This explains genetic diversity among organisms

Setting up a dihybrid

#1- list all 4 alleles For example: R=round, r=wrinkled, Y=yellow, y=green

#2 – Create the parental genotypes (4 letters each) Example: RRYY (Round, yellow) x rryy (wrinkled,

green) #3 – Using the “foil” method, determine the

sets of gametes (up to 4 possibilities) Example: RRYY RY

RrYy RY, Ry, rY, ry#4 – Fill in the tops and sides of punnett

square with gamete combinations#5 - Genotype and Phenotype as usual

Dihybrid Example Problem #1

Round is dominant over wrinkledYellow is dominant over greenTwo pea plants produce offspring. One is

round and heterozygous for yellow seed color. The other is wrinkled and heterozygous for yellow seed color.

Parental genotypes = RRYy x rrYy

Possible gametes RY, Ry rY, ry


Set up the dihybrid cross

RY Ry rY

ry

RrYY RrYy

RrYy Rryy


Determine the genotype and phenotype!

RY Ry

Genotype: Phenotype: 1 RrYY: 2 RrYy : 1 Rryy 3 Round, yellow

1 Round, green

rY

ry

RrYY RrYy

RrYy Rryy


Key: Black fur is dominant (B) to white fur (b)Long hair is dominant (L) to short hair

(l) Two guinea pigs mate. The dad is

homozygous for black fur and long hair. The mom is also homozygous, but for white fur and short hair. 1) Determine the possible gametes of each 2) What is the only gamete possibility for their

offspring?


Key: Black fur is dominant (B) to white fur (b)Long hair is dominant (L) to short hair (l)

Two guinea pigs mate. The dad is homozygous for black fur and long hair. The mom is also homozygous, but for white fur and short hair.

1) Determine the possible gametes of eachDad 4 BL Mom 4 bl

2) What is the only gamete possibility for their offspring?

100% BbLl (Black, long-haired)

Incomplete Dominance

Neither allele is dominant over the otherHeterozygous condition shows a blending of

genesAssign capital and lowercase letters for alleles

Example problem #1

If a red four o’clock flower is crossed with a pink four o’clock flower what will their offspring look like?

RR = redrr = whiteRr = pink

Perform cross

RR x Rr

Genotype ratio:

Phenotype ratio:

Codominance

Both alleles are equalBoth alleles are expressed in the organismUse capital letters for both alleles

Codominance Example

Black feathers and white feathers in chickens is codominant. In the heterozygous condition the feathers are called “erminette” and appear blue. BB = black WW or B’B’ = White BW or BB’ = blue

Codominance Problem #1

Cross a Black chicken with a blue roosterParents = BB x BW (BBx BB’)

Genotype ratio:

Phenotype ratio:

Sex-linked Problems

Some traits are only carried on the X chromosome

Traits can be dominant or recessiveSex-linked traits include:

Color blindness Hemophilia Duchene muscular dystrophy Fragile X syndrome

Males sex chromosome (XY)Females sex chromosome (XX)Sex-linked traits are more common in males

It is good to be female!

Males are more likely to have these disorders since they only have 1 X chromosome (XY)

Females have two chances (XX), but they can be carriers and pass it on to their offspring

Ex: H = normal h = hemophilia

XHXH = normal female XHY = normal maleXHXh = carrier female XhY = hemophiliac male

Example Problem

A carrier female marries a normal male. What are the chances that they will have a hemophiliac child?

Key:ParentsGenotype ratio:Phenotype ratio:

Multiple Alleles

Blood Type ProblemsThere are 4 blood types: A, B, AB, OA and B are codominantO is recessive

Blood Type Key

AA = homozygous Type AAO= heterozygous Type ABB= homozygous Type BBO= heterozygous Type BAB= codominant ABOO = Type O

SIX total combination possibilities

Example Problem

A type AB woman marries a type O man. What are the possible phenotypes of their offspring?

AB x OO

B A

O

O

Dihyrbid Example Problem

Round is dominant over wrinkledYellow is dominant over greenTwo homozygous pea plants produce

offspring. One is round and yellow. The other is wrinkled and green. What will their F2 generation look like? RY rY Ry ryRRYY RrYY RRYy RrYy

RrYY rrYY RrYy rrYy

RRYy RrYy Rryy Rryy

RrYy rrYy Rryy rryy

RYrYRyry

RRYY RrYY RRYy RrYy

RrYY rrYY RrYy rrYy

RRYy RrYy Rryy Rryy

RrYy rrYy Rryy rryy

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