Chapter 16

Inheritance
Overview
• Meiosis
• Genetic Variation
• Monohybrid Crosses
• Dihybrid Crosses
• Chi-Squared Test
• Genes & Protein
• Control of Gene Expression
Meiosis
Sexual Reproduction
• Homologous chromosome: two chromosomes
that carry the same genes in the same positions
• Two homologous chromosomes = bivalent

• Diploid vs. Haploid

• Diploid: two complete sets of chromosomes from
both parents, 2n
• Haploid: one complete set of chromosomes, n
Sexual Reproduction
• Gamete: sex cell, haploid, n
• Sexual reproduction: reproduction including
fusion of two gametes
• Fertilisation: process for two gametes to fuse
together
• Zygote: cell produced after fusion of gametes
Meiosis 细胞 变成精 卵
的 过程
• Without halving the number of
chromosomes into haploid gametes,
number of chromosomes will double every
generation

• Meiosis: reduction division 2n n

• I & II
• Prophase, Metaphase, Anaphase, Telophase
Prophase I
• Chromosomes are copied
• Centrosomes move to opposite
poles
• Spindle fibres formed
• Nuclear envelope and nucleolus
break down
• Crossing over between a bivalent
Late Prophase I
• Crossing over: exchange genes
between non-sister chromatids of
homologous chromosomes

• Chiasma (chiasmata): position where

crossing over occurs
Metaphase I
• Spindle fibres attach to centromeres
• Arrange bivalents to the equator
• Each bivalent remains attached at
chiasma
Anaphase I
• Spindle fibres pull on centromeres
• Each chromosome in bivalent is pull to
opposite poles
• Intact centromeres, two chromatids
together
Telophase I & Cytokinesis
• Chromosomes arrive at opposite poles
of the cell
• Spindle fibres break down
• Reduction division takes place
• Each new cell contains one complete
set of chromosomes
• Cytoplasm splits into two, forming two
complete haploid cells
Prophase II & Metaphase II
• Nuclear envelope and nucleolus
disappear
• Centrosome duplicate and move
to opposite poles
• Chromosomes are lined up at
equator
• Spindle fibres attach to
centromeres
Anaphase II
• Centromeres divide
• Chromatids are pulled to opposite
poles
Telophase II
• Chromatids arrive at opposite
poles
• Nuclear envelope and nucleolus
form
• Cytoplasm divide
• Form 4 haploid cells
Tel ophase I Cytokinesis
Genetic Variation
Genetic Variation
• Gene: length of DNA that codes for a particular protein
• Locus (Loci): position in chromosome, particular gene is found on a
particular chromosome
• Allele: Particular variety of a gene
 Length of DNA that codes for a particular protein. Each gene is
located at a speci c position (locus) on a chromosome and
can exist in di erent forms called alleles, which may lead to
variations in traits.

Particular variety of a a gene that can exist at a speci c locus on

a chromosome. Alleles can di er slightly in their DNA sequence,
leading to variations in the expression of a gene. Each individual
inherits two alleles for each gene, one from each parent. These
alleles may be homozygous or heterozygous.
Genetic Variation
• Crossing Over
• Independent Assortment
• Random Fertilisation
Genetic Variation - Crossing Over
• During prophase I
• Change combination of alleles of genes on
chromosomes in a bivalent
• Produce different gametes
Genetic Variation - Independent Assortment
• During metaphse I
• Random orientation of bivalents
• Different combinations of chromosomes and
alleles
• Produce different gametes
Genetic Variation - Random Fertilisation
• Any male gamete can fuse with female gamete
• Different combinations of gametes
• Produce different individuals
Genes & Alleles
• Hb: genes code for β-globin polypeptide chain on haemoglobin
• HbA: allele for normal haemoglobin
• HbS: allele for sickle cell
• Diploid cell - Two sets of chromosome
• HbAHbA
• HbSHbS
• HbAHbS
Genotype & Phenotype
• Genotype: alleles possessed by organism
• Homozygous: two identical alleles: HbAHbA, HbSHbS
• Heterozygous: two different alleles: HbAHbS

• HbAHbA
• HbAHbS
• HbSHbS
Genotype & Phenotype
• Phenotype: observable features
• Can be affected by genes and environment

• HbAHbA: DNA coding for normal haemoglobin

• HbAHbS: Half of DNA coding for normal haemoglobin, half DNA coding
for sickle cells, sickle traits, or carrier 成 半 normal Hb 半sickle cel
• HbSHbS: DNA coding for sickle cell, sickle cell anaemia
Genotype & Phenotype
• Dominant: one allele can have effect on phenotype
• Recessive: only affect phenotype when dominant allele is not present

• B: gene for brown coat in rabbit

Genotype & Phenotype
• Codominant: both have effect on phenotype
 alleles
It means both IA and IB can have
effect on phenotype
Genotype is allele possessed by
organisms while phenotype is an
observable feature
Monohybrid Crosses
Monohybrid Inheritance
• Inheritance of one gene
• Genetic diagram: standard format to predict genetic cross
• Punnett square: part of genetic diagram to work out genotypes of
gametes

• F1 generation: offspring produced between parents

• F2 generation: offspring produced between two F1 generation
Monohybrid Crosses
Monhybrid Crosses
Genetic Diagram
• Complete genetic diagram, including headings
• Punnett square is a part of genetic diagram
• Write phenotype underneath the genotype
• If parental gametes is homozygous, only one type of gamete can be
produced
• Predicted genotypes are all based on chance, not exact results
• Codominant alleles work in the same way
Test Cross
• Genetic cross between an organism showing a characteristic caused
by a dominant allele with an organism with homozygous recessive
• Phenotypes of offspring can be used to deduce whether the organism
is homozygous or heterozygous
• B? x bb
Sex-linkage
• 23 pairs of chromosomes
• Autosome: 22 pairs
• Sex chromosomes: 23rd pair
• Female: XX
• Male: XY
• Y chromosome is much shorter than the X
• X chromosome contains many genes that are not
found on the Y chromosome
Sex-linkage
• Sex-linked: only found on sex chromosomes
• Carrier: effect of the recessive allele is masked by a dominant allele
• Carrier will not have disease or symptom, but will pass to offspring
• Haemophilia: problem with blood clotting
carrier
eg XB X female

X Y male phenotype is shown

Sex-linkage
• Normal factor VIII is necessary for blood clotting
• Only on the X chromosome
• Dominant will produce normal factor VIII
• Recessive allele will result in lack of factor VIII
female mare
 B B
X X x X Y XOXO x x BY
B
XBX0 X Y
B X0X X0Y
 B B
X X0 X Y
B B B O
X X X X
O
X Y XBY
black tortoiseshell orange black
female female male male
XF

Xf Y
Dihybrid Inheritance
Dihybrid Inheritance
• Inheritance of two genes
• Independent assortment of
bivalents
• Produce different types of
gametes with different alleles
Dihybrid Crosses
• Colour of fur + Length of ear
• B: brown fur, bb: white fur
• E: long ears, ee: short ears

• Possible gametes:
Dihybrid Crosses
• Bbee can produce only:
Be and be, two types of
gametes
Dihybrid Crosses
• Dihybrid test cross
Colour of stem
• A: allele for purple stem
• a: allele for green stem

Leaf shape
• D: allele for cut leaves
• d: allele for potato leaves
• 1:1:1:1
Dihybrid Crosses

AD Ad a Dad
stem
purple
ADA ADD AADdAaDD Aa Dd cut leaves
Ad AADd AAdd AaDd Aadd
DA aDD AaDdaaDD a a Dd
a

ad Aapd Aadd a aDd a add

Dihybrid Crosses
• Typical ratio 9:3:3:1
• Parents are both
heterozygous
CBCBxaxa CWCWXAY
CBX
a
CNXA C Y

CBC x Axa CBCwxaY

Epistasis
• The alleles of one gene affect the expression of the other
• Feather colour
• F: white feathers
• G: coloured feathers
• F prevents G to produce coloured feathers
• G can affect chracteristic only when F is absent
Autosomal Linkage
• Alleles are on the same chromosome - linked
• On autosome - autosomal linkage
• Autosome: 22 pairs except sex chromosome
Autosomal Linkage
• Drosophila 果蝇
• E: allele for striped body
• e: allele for ebony body
• A: normal antennae

q
• a: aristopedia antennae
• On same chromosome, cannot assort independently
• Same combination with parents’ alleles All a
• (EA)(EA), instead of EEAA, EEAA = independent assortment
• (ea)(ea) in ongchromosom

cannot separate
Autosomal Linkage
• Homozygous dominant male x Homozygous recessive female
Autosomal Linkage
Autosomal Linkage & Crossing Over
• Cross over can take place even when the alleles are linked
• Without cross over, offspring will have same combination of
characteristics as parents, parental type
• Crossing over break the linkage genes on the same chromosome
• Offspring can have different combinations of characteristics from
parents, recombinants
• Parental type: crossing
over
• EA, ea

• Recombinants:
• Ea, eA
Chi-Squared (χ2) Test
Dihybrid Crosses
• Ratio: 9:3:3:1
• Phenotype:
• 9:
• 3:
• 3:
• 1:
Chi-Squared (χ2) Test
• Allow comparison between observed results and expected results

• Total: 144 • Total: 144

• Predicted ratio: • Actual number
Chi-Squared (χ2) Test
Chi-Squared (χ2) Test
• Null hypothesis: There is no significant difference between observed
result and expected result
• Probability: the differences between the expected and observed
results are due to chance
• Probability = 0.05: differences occur in 5 out of every 100
experiments, or 1 in 20, just by chance
• If p < 0.05, less likely to occur, reject null hypothesis
• Degree of freedoms: number of data classes - 1
Chi-Squared (χ2) Test
• 4 data classes, Degree of freedoms: 4 - 1 = 3
• Probability: 0.05
• χ2 = 0.79, < 7.82
• No significant difference, any difference in results are due to chance
 When probability greater than o

1.76C7.82 No significantdifference
iii
in Any
to
difference in results
chance as the diceisǚ
are due

not significant when probability is

greater Than 0.5
Genes, Proteins and Phenotype
 It refers to a change in sequence of
nucleotides
Albinism 化病

• Gene: TYR
• TYR, normal type codes for normal
tyrosinase Allele
• Mutation in gene will result in absence of
tyrosinase or inactive tyrosinase
素dark pigment, missing
• Result in melanin,
from the eyes, skin and hair
• Poor vision, eye avoiding bright light
Albinism

oxydize
• Autosomal recessive
not sex linkage
Sickle Cell Anaemia
• Gene: HBB
• Normal: HbA
Allele
y
• Sickle: HbS
co dominant
• On chromosome 11 with TYR
Haemophilia 友病
• Gene: F8
• Code for protein factor VIII for blood clotting
• Sex-linkage on X chromosome
• Male cannot mask normal or sick 50
either
• Female can be carrier without any charateristics
 亨廷顿病
Huntington’s Disease
• Gene: HTT
enge 品
• Code for protein huntingtin
去5
repetition
• Repeated CAG triplet on chromosome 4, called stutter
• Repeat over 40 times, disease
• Neurological disorder, involuntary movements and progressive mental
disorientation
智 发育 不 全 异常 动作
• Inverse correlation between number of times CAG is repeated and
the age of onset
CAGtriplets重复 越 多 发病 越 早
Stem Elongation
• Gene: Le
• Le: normal, produce gibberellin
• le: absence of gibberelin (cabbage)
• Give gibberelin to cabbage will stimulate them to grow tall

have le
norman cabbage only
Control of Gene Expression
Gene Expression in Prokaryote
• Genes are switched on and off for transcription
• Structural genes: codes for the production of a protein (enzyme) that
is used by the cell
• Regulatory genes: codes for a protein that helps to control the
expression of other genes
• Operon: cluster of genes in prokaryote, including structural and
regulatory genes, functional unit of transcription
Gene Expression in Prokaryote
• β-galactosidase, also known as lactase
• lac operon: operon that is responsible for the production of lactase
• In bacterium Escherichia coli
• lac operon can switch transcription of β-galactosidase gene on and off
Gene Expression in Prokaryote
• lac operon contains three structural genes
• lacZ: code for β-galactosidase (lactase)
• lacY: code for permease (which allows lactose to enter the cell)
• lacA: code for transacetylase
Gene Expression in Prokaryote
• Regulatory gene of operon
• Repressor: repress/inhibit the transcription

• Operator region: repressor binds to operator region, close to gene of

β-galactosidase
• Promotor region: RNA polymerase can bind to DNA on promotor
region, to start transcription
• If repressor binds to operator region, RNA polymerase cannot bind to
promotor region
start
Gene Expression in Prokaryote
• Repressor protein has two binding site, bind to DNA or bind to lactose
• Bacterium uptakes lactose
• If lactase is absent, lactose is present
• Lactose can bind to lac repressor, lac repressor change the shape to
close DNA-binding site, leave DNA operator region
• DNA transcription for lactase is no longer inhibited, lactase is formed
by three structural genes inhibitor
end product
Gene Expression in Prokaryote
• Only when lactose is present, E. coli start to produce lactase

• Inducible enzyme: production of the enzymes only when substrate is

present
• Presence of substrate switch on the transcription
• Repressible enzyme: inhibit production of the enzymes when the
substrate is present
• Presence of substrate switch off the transcription
Gene Expression in Eukaryote
No nuclear envelope

• Prokaryote has simple structure, nucleus uncovered, eukaryote has

no operon
• Transcription factor: a protein binds to DNA that can switch on and off
transcription at the correct time for corrent extent Eukaryotes have this factor
• 10% genes in human code for transcription factor proteins
Gene Expression in Eukaryote
• Transcription factor forms a complex, binds to promotor region of
gene
• Transcription factors ensure genes are activated in correct sequence
• Transcription factors allow responses to external stimuli
• Transcription factors can regulate cell cycles
• Hormones can have effects on genes through transcription factors
Gene Expression in Plants
• Hormone can have effect on gene through transcription factors
• Transcription factor: phytochrome-interacting protein (PIF)
• PIF can bind to promotor region of a gene
• Repressor: DELLA protein, binding to PIF
• Need to remove repressor DELLA protein to start transcription
• Hormone: gibberellin, remove repressor
Gene Expression in Plants
• DELLA protein binds to PIF
• PIF cannot bind to promotor, transcription cannot start
• Gibberellin binds to gibberellin receptor and an enzyme
• Destroy DELLA protein
• PIF can bind to promotor region on gene
• Transcription starts