Genes and Inheritance

GCE Study Buddy

Biology
 Chromosomes
 Genetic materials found inside the nucleus of a cell
 Made up of DNA & protein
 Appear as very thin & thread-like structures called
Chromatins
 Each cell in each type of organism has a definite
number of chromosomes
 Each cell has Diploid Number of chromosomes:
1 set of Paternal Chromosomes + 1 set of Maternal
Chromosomes
gene controlling
skin colour • A gene is a short length
of DNA on a
chromosome which is a
gene controlling
unit determining an
tongue rolling
inherited character
chromosome
• It consists of a chemical
substance called
gene controlling
deoxyribonucleic acid
eye colour
gene controlling (DNA)
blood group
gene controlling
skin colour

gene controlling
tongue rolling • DNA is responsible for
telling the cell to make
chromosome the right type of protein &
control the metabolic
gene controlling activities of the cells
eye colour
gene controlling
blood group
 Homologous Chromosomes

 Chromosomes always exist in pairs in the body (somatic)

cells
• Each human somatic cell has 46 chromosomes
– 23 pairs of homologous chromosomes
allele for allele for
white skin dark skin
colour colour
• Members of homologous
chromosomes carry the same
genes (controlling the same
character) in same loci
• But the genes on the
members of homologous
chromosomes may be of
different forms (effects)
 Alleles
 Alleles

• Alternative forms of genes on the same

position of the homologous chromosomes
which control the same character but have
different expressions
 What would happen if gametes
are formed by mitosis?
Male (2n) Female (2n)
Mitosis
Sperm (2n) Egg (2n)
Fertilization
Zygote (4n)
Mitosis
Sperm/Egg (4n)
Fertilization
Zygote (8n)
 Meiosis
 Producing cells with chromosome number half of
the parent cell

 Two nuclear divisions

Meiosis I and meiosis II

 Four haploid cells are produced
 First Meiotic Division
 Chromosomes become visible
 Nuclear membrane disappears
• Homologous chromosomes pair up (not in mitosis)
• Crossing-over (not in mitosis) may occur between
homologous chromosomes
• Homologous chromosomes line up in the middle of cell
randomly
• The 2 members of each homologous chromosome separate
from each other and move towards the opposite poles of
the cell
 Nuclear membrane reforms
 Followed by cytoplasmic cleavage
 Second Meiotic Division

 Separation of chromatids of each chromosome

 4 daughter cells with half of the chromosome
number of the parent cell are formed
 Occurrence of meiosis
 Plants: anthers and ovules
 Mammals: testes and ovaries
Comparison between Mitosis &
Meiosis
Mitosis Meiosis
Number of division 1 2
No. of daughter cells 2 4
produced
Type of cells produced Somatic (body) cells Gametes (sex cells)
Chromosome number of Same as parent cell Half of parent cell
daughter cells (diploid) (haploid)
Pairing of homologous No Yes
chromosomes
Occurrence Growing tissues Reproductive tissues
(gonads)
Role For growth and For gamete formation
replacement
 Significance of meiosis

 Produce haploid gametes which,

after fertilization, can restore normal
diploid conditions
 Produce genetic variations
 Sources of genetic variation
 Different combination of the genes of each
gamete

 Random fusion of gametes during fertilization

 The pattern of
inheritance and variation
Heredity: tendency of an individual to
resemble his parents
Variation: the differences between
individuals of the same species
Genetics: the study of how characters are
transferred or inherited from one
generation to the next
Mendel’s Breeding Experiment
Monohybrid Inheritance:
• The inheritance of just one pair of
contrasting characters
• Cross 2 pure breeding parents with
contrasting characters
 pure-breeding x
parents
purple white

first filial (F1)

generation all purple

second filial (F2)

generation
705 purple 224 white
monohybrid ratio 3:1
 Terms
 Genotype - the genetic composition
 Phenotype - the external appearance
 Homozygous (pure-breeding)
 with the same alleles in the same character
 Heterozygous (hybrid)
 with different alleles
 Dominant gene (or character)
 which expresses its effect even in heterozygous condition
 Recessive gene (or character)
 which expresses its effect only in homozygous condition
• Pedigree
• it shows the inheritance of one or more characters in different generations
 Test cross
 cross the organism with dominant character to an organism with
homozygous recessive character
 to test whether the organism with the dominant character is homozygous
or heterozygous
• Back cross
– cross an organism with one of its parent
 Sex Determination
 in human: by sex chromosomes
 male : XY
 female : XX

• chromosomes other than sex chromosomes  somatic

chromosomes which control normal body characters
• 22 pairs are identical in both sexes (human)
• autosomes
• The 23rd pair is different in male and female
• sex chromosomes
 Twins
 identical twins
 one embryo separates into two and each develops into a new
individual
 they should have same characters and same sex

• non-identical twins
– formed from two different zygotes from two separate
fertilizations
– they usually have different characters
– they may have different sexes
 Types of Variations
• continuous variation
– with a continuous range of intermediate values
– eg. height, weight, intelligence quotient, heart beat
No. of individuals

continuous
variation

human height
 Types of Variations
 discontinuous variation
 the character is clear-cut & not showing intermediates
 eg. tongue rolling, ear lobes and colour of corn

albinism
 Causes of Variations
 Meiosis
 homologous chromosomes separate independently from each other
and pass into a different gamete ( INDEPENDENT ASSORTMENT). As a
result, a great variety of gametes are produced
• Random Fertilization
• since fertilization is a random process, there are many possible different
combinations of genes in a zygote
 Mutation
 genetic make-up may suddenly change
 sometimes occur naturally
 rate may greatly increased if the organism is exposed to radiation,
certain chemicals or neutron bombardment
 most mutation are harmful
• Environmental Factors
• cause variation in characters with continuous variation
 DNA
• Deoxyribose Nucleic Acid
• A very long, thin molecule made up of DNA
nucleotides
• 2 nucleotide strands in the form of double helix
• DNA together with proteins made up the
chromosomes
• Chromosomes are mainly found inside the
nucleus in human cells
DNA is a polymer of DNA nucleotides
Each nucleotide consists of ...

Phosphate
Organic bases
Pentose

4 types of bases :
A T G C
DNA nucleotides condense into
DNA molecule

A T
G C
A T
T A

T A

C G
T A

C G
A simplified representation of DNA molecule

A T
A T
G C
C G
T A
T A
G C
C G
T A
G C
T A
Genetic information stored as triplet codes of bases in DNA

ATG GTT AAA ATC CCC CTG GGT ATG GTG ATT
Transcription &
Translation

AA 1 AA2 AA3 AA AA5 AA6 AA7 AA8 AA9 AA10

4

Polypeptide

Proteins serve as
• enzymes
• Hormones
• Structural proteins
 Mendel’s experiment
 A number of different
traits that can be
studied
 Plant should be self
fertilizing and have a
flower structure that
limits accidental
contact.
 Offspring should be
fully fertile
7 characters had been studied
1. Seed shape
2. Seed colour
3. Flower colour
 7 characteristics studied
4. Pod shape
5. Pod colour
 7 characteristics studied
6. Flower position
 7 characteristics studied
7. Stem height
 Principle of segregation
 Monohybrid
 pure breeding
 self fertilization
 parental generation
 F1 generation
 F2 generation
 P generation
 smooth x wrinkle
 F1 generation
 all smooth
 F2 generation
 smooth : wrinkle
3 : 1
 Meiosis
 gene
 Allele
 Dominant/ Recessive
 Homozygous
 Heterozygous
 genotype /phenotype
 Dihybrid cross
 Defintion of the
alleles
 Determination of the
dominance
 construction of the
Punnett’s square
 Principle of Independent
Assortment
 Recombination of
alleles into each small
square
 Determination of
Phenotype and
Genotype ratios in the
next generation
 Labeling the
generations e.g. P,F1..