ILIGAN MEDICAL CENTER COLLLEGE

CYTOGENETICS SEMI-FINALS LECTURE HANDOUTS

By Martin Clyde G. Paglinawan, RMT

REVISED MATRIX

1. MENDELIAN GENETICS

Gregor Mendel
Types of Genetic Crosses
Punnett Square
Genes
Genotypes
Generation Gap
Monohybrid Cross
Dihybrid Cross
Mendels Laws
Incomplete Dominance
Codominance
Sex-Linked Traits

MENDELIAN GENETICS

GREGOR MENDEL

Austrian monk
Studied the inheritance of traits in pea plants
Developed the laws of inheritance
Mendel's work was not recognized until the turn of the 20th century
Between 1856 and 1863, Mendel cultivated and tested some 28,000
pea plants
He found that the plants' offspring retained traits of the parents
Called the Father of Genetics"

PARTICULATE INHERITANCE

Mendel stated that physical traits are inherited as

GENETIC TERMINOLOGY
Mendel did not know that the particles were actually Chromosomes & DNA
Trait - any characteristic that
TYPE OF GENETIC CROSSES
can be passed from parent to
Monohybrid cross cross involving a single trait (e.g. flower color) offspring
Dihybrid cross - cross involving (e.g. flower color & plant height) Heredity - passing of traits
from parent to offspring
PUNNETT SQUARE Genetics - study of heredity
A diagram that is used to predict an outcome of a particular cross or breeding experiment.
It is named after Reginald C. Punnett, who devised the approach.

GENES
Genotype & Phenotype in Flowers
Alleles - two forms of a gene (dominant & recessive)
Dominant - stronger of two genes expressed in the hybrid; represented by a capital Genotype of alleles
letter (R) R = red flower
Recessive - gene that shows up less often in a cross; represented by a lowercase r = yellow flower
letter (r) All genes occur in pairs,
Genotype - gene combination for a trait (e.g. RR, Rr, rr)
so 2 alleles affect a characteristic
Phenotype - the physical feature resulting from a genotype (e.g. red, white)
Possible combinations are:
GENOTYPES
Genotypes RR Rr rr
Homozygous genotype - gene combination involving 2 dominant or 2 recessive
Phenotypes RED RED YELLOW
genes (e.g. RR or rr); also called pure
Heterozygous genotype - gene combination of one dominant & one recessive
allele (e.g. Rr); also called hybrid

Why peas, Pisum sativum?

Can be grown in a small area

Produce lots of offspring
Produce pure plants when allowed to self-pollinate several generations
Can be artificially cross-pollinated SEVEN PEA PLANT TRAITS
Reproduction in Flowering Plants 1. Seed shape Round (R) or Wrinkled (r)
Pollen contains sperm produced by the stamen 2. Seed color Yellow (Y) or Green (y)
3. Pod shape Smooth (S) or Wrinkled (s)
Ovary contains eggs inside the flower
4. Pod color Green (G) or Yellow (g)
Pollen carries sperm to the eggs for fertilization 5. Flower position Axial (A) or Terminal (a)
Self-fertilization can occur in the same flower 6. Stem length Tall (T) or Dwarf (t)
Cross-fertilization can occur between flowers 7. Flower color Purple (P) or White (p)
How Mendel Began?
 Mendel produced pure strains by allowing the plants to self-pollinate for several generations.

GENERATION GAP

Parental P1 Generation = the parental generation in a breeding experiment

F1 generation = the first-generation offspring in a breeding experiment. (1st filial generation)
o From breeding individuals from the P1 generation
F2 generation = the second-generation offspring in a breeding experiment.
(2nd filial generation)
o From breeding individuals from the F1 generation

Following the Generations

Cross 2 Pure Plants Results in all Hybrids Cross 2 Hybrids get 3 Tall & 1 short
TT x tt Tt TT,Tt, tt

MONOHYBRID CROSSES

v\ P1 Monohybrid Cross F1 Monohybrid Cross

Trait: Seed Shape Trait: Seed Shape

Alleles: R Round r Wrinkled Alleles: R Round r Wrinkled
Cross: Round seeds (RR) x Wrinkled seeds (rr) Cross: Round seeds (RR) x Round seeds (Rr)

r r R R

R Rr Rr R RR Rr

R Rr Rr r Rr Rr

Genotype: Rr Genotype: Rr, RR, rr

Phenotype: Round Phenotype: Round
Genotypic Ratio: 1 Genotypic Ratio: 1:2:1
Phenotypic Ratio: 1 Phenotypic Ratio: 3:1

P1 Monohybrid Cross Review F1 Monohybrid Cross Review

Homozygous dominant x Homozygous recessive Heterozygous x Heterozygous

Offspring all Heterozygous (hybrids) Offspring:
Offspring called F1 generation 25% Homozygous dominant RR 50% Heterozygous Rr
Genotypic ratio is 1 25% Homozygous Recessive rr
Phenotypic ratio is 1 Offspring called F2 generation
Genotypic ratio is 1:2:1
Phenotypic ratio is 3:1

Test Cross

Mendel then crossed a pure & a hybrid from his F2 generation

This is known as an F2 or test cross
There are two possible testcrosses
HomozygousFdominant
2 Monohybrid Cross (1st)
x Hybrid F2 Monohybrid Cross (2nd)
Homozygous recessive x Hybrid
Trait: Seed Shape Trait: Seed Shape
Alleles: R Round r Wrinkled Alleles: R Round r Wrinkled
Cross: Round seeds (RR) x Round seeds (Rr) Cross: Wrinkled seeds (rr) x Round seeds (Rr)

R r R r

R RR Rr r Rr rr

R RR Rr r Rr rr

Genotype: RR, Rr Genotype: Rr, rr

Phenotype: Round Phenotype: Round and wrinkled
Genotypic Ratio: 1:1 Genotypic Ratio: 1:1
Phenotypic Ratio: 1 Phenotypic Ratio: 1:1

F2 Monohybrid Cross (1st) Review F2 Monohybrid Cross (2nd) Review

Homozygous dominant x Heterozygous (hybrid) Homozygous recessive x Heterozygous (hybrid)

Offspring: Offspring:
50% Homozygous RR 50% Homozygous rr
50% Heterozygous Rr 50% Heterozygous Rr
Genotypic ratio is 1:1 Genotypic ratio is 1:1
Phenotypic ratio is 1:1 Phenotypic ratio is 1:1
Called Test Cross because the offspring have SAME genotype as Called Test Cross because the offspring have SAME genotype as parents
parents
MENDELS LAWS

Results of Monohybrid Crosses

Applying the Law of
Inheritable factors or genes are responsible for all heritable characteristics
Phenotype is based on Genotype
Dominance
Each trait is based on two genes, one from the mother and the other from the
father
True-breeding individuals are homozygous ( both alleles) are the same

1. Law of Dominance

In a cross of parents that are pure for contrasting traits, only one form of the trait
will appear in the next generation.
All the offspring will be heterozygous and express only the dominant trait.
RR x rr yields all Rr (round seeds)

2. Law of Segregation
Applying the Law of
During the formation of gametes (eggs or sperm), the two alleles responsible for
a trait separate from each other. Segregation
Alleles for a trait are then "recombined" at fertilization, producing the genotype
for the traits of the offspring.

3. Law of Independent Assortment

Alleles for different traits are distributed to sex cells (& offspring) independently
of one another.
This law can be illustrated using dihybrid crosses.

DIHYBRID CROSS

A breeding experiment that tracks the inheritance of two traits.

Mendels Law of Independent Assortment
o Each pair of alleles segregates independently during gamete formation
o Formula: 2n (n = # of heterozygotes)
How many gametes will be produced for the following allele arrangements?
o RrYy
o AaBbCCDd
o MmNnOoPPQQRrssTtQq

DIHYBRID CROSSING

Traits: Seed shape & Seed color

Alleles: round (R), wrinkled (r), Yellow (Y), Green (y)

RrYy x RrYy

RY Ry rY ry
RY RRYY RRYy RrYY RrYy
Ry RRYy RRyy RrYy Rryy
rY RrYY RrYy rrYY rrYy
ry RRYy Rryy RrYy rryy
Genotype: RRYY, RRYy, RRyy,RrYY,RrYy, Rryy, rrYY, rrYy,rryy
Phenotype: Round and Yellow, Round and Green, Wrinkled and Yellow, Wrinkled and Green
Genotype ratio:__________________
Phenotype ratio: 9:3:3:1

INCOMPLETE DOMINANCE

F1 hybrids have an appearance somewhat in between the phenotypes of the two parental varieties.
Occurs in the polygenic inheritance of traits such as eye color and skin color.

Example: snapdragons flower

red (RR) x white (rr)

produces the
All Rr = pink (heterozygous pink)
 r r
R Rr Rr
R Rr Rr

CODOMINANCE

Two alleles are expressed (multiple alleles) in heterozygous individuals.

Example: Blood Types

1. Type A = IAIA or IAi

2. Type B = IBIB or IBi
3. type AB = IAIB
4. type O = ii

Example Problems: homozygous male Type B (IBIB) x heterozygous female Type A (IAi)

SEX-LINKED TRAITS

Traits (genes) located on the sex chromosomes

Sex chromosomes are X and Y
XX genotype for females
XY genotype for males
Many sex-linked traits carried on X chromosome

Example: Eye color in fruit flies

Problem: (red-eyed male) x (white-eyed female)

X RY x X r Xr
Remember: the Y chromosome in males does not carry traits.

Example: Hemophilia
RY Ry rY ry RY Ry rY ry