Meiosis, genetics and gene control

• Asexual (genetically identical offspring)

produced through mitosis (eukaryotes) and
binary fission (prokaryotes)

• Sexual reproduction (genetically different)

through gametes and fertilization (zygote)

• Gametes are haploid (n)  done through

meiosis from diploid (2n) cells

• Meiosis introduces genetic variation

 Meiosis
• Meiosis I (reduction division) and meiosis II
(mitosis)
• 4 haploid nuclei
• Produce genetic variation through
independent assortment and crossing-
over
• More variation is produced when genetically
different gametes fuse
 Genetics
• Gene – length of DNA that codes a
polypeptide molecule
• Triplet (3 bases) stands for 1 aa
• Homologous – chromosome that contain
DNA for making same polypeptides
• Diploid cell have 1 homologue from
mother and another from father
• They lie in the same position (locus)
 Alleles
• Human cells contain 46 chromosomes
(2 each of 23 types)
• Numbered/have own particular gene
• Each cell contains 2 copies of genes
(1 maternal and 1 paternal)
• Different varieties of same gene are
called alleles
• Eyes color: black and blue
 Genotype
• Most genes have several different alleles
• Represented by symbols
• Ex: HT(tall) and Ht (short)
• Letter H is the locus, T and t represents
tall and short alleles
• The alleles that an organism has decides
the genotype
• Homozygous = 2 same alleles
• Heterozygous = 2 different alleles
 Genotype affects phenotype
• HNHN genotype that codes for normal β
polypeptide
• HSHS genotype that codes for sickle cell β
polypeptide sickle cell anemia (inefficient in
transporting O2)
• Phenotype – observable characteristics
• HNHS genotype  half Hb normal, another half
SCA = sickle cell trait (carriers)
• Perfectly healthy unless do strenuous exercise
at high altitude
 Inheriting genes
• Haploid gametes made from diploid cells
• Each gamete contains 1 of each chromosome
pair

• Genotype of HNHS (heterozygote) will have

50% HN gametes and 50% Hs gametes
(meiosis)

• Can be used to predict possible genotype of

offspring (probability)
 Genetic diagrams
• Standard way of showing genotypes of
offspring (that might be expected)
• CR (red flower)
• CW (white flower)

• CRCR (red), CRCW (pink), CWCW (white)

• Red x pink
• Diagram
 Dominance
• Only 1 allele has effect in a heterozygous
organism  DOMINANT
• Recessive  no effect

• Capitalized letter for dominant

• TT (tall), Tt (tall), tt (short)

• Never use S or P (same-confusion)
 Test crosses
• Used to determine the exact genotype

• Tall can be represented by TT and Tt (so

which one???)

• Use test cross

• Involves crossing an organism showing the
dominant phenotype with one which is
homozygous recessive
 Multiple alleles
• Some genes have more than 2 alleles

• Human blood group

• A, B, O, AB
• Determined by single gene

• 3 alleles: IA, IB, IO

• IA and IB are CODOMINANT
• IO is recessive
 Sex inheritance
• Sex is determined by sex chromosomes
• Another 22 pairs = autosome
• The 2 sex chromosomes are not always
alike
• Do not always have same genes in the
same position (not always homologous)
• X and Y (shorter – fewer genes)
• XX  female
• XY  male
 Sex linkage
• X chromosome have many GENES
• Sex-linked gene found on X chro not
matched by the Y
• Gene to produce factor VIII (blood clotting
– hemophilia)
• Women needs 2 faulty X chromosome to
get the disease
• Men needs only 1
• XHXh (women) XHY (men)
 Dihybrid crosses
• Inheritance of 2 genes at once

• Diagram
• Independent assortment causes variety in
gametes formed

• 1:1:1:1 (heterozygous x homozygous recessive)

• 9:3:3:1 (heterozygous x heterozygous)

 The chi-squared test
• It’s a bout ratio (9:3:3:1)
• But sometimes the real number may differ
a little

• χ² = Compare observed results and

expected results  decide the difference
significant/not sig
• 1st step: carry out expected results
• 2nd step: expected and observed results
recorded
• 3rd step: calculate the difference, then
square it
• 4th step: divide squared difference with
expected value
• 5th step: add up all
• After getting χ² value, look in a table of
probablities
• ≥ 0.05= difference between E and O results
are NOT SIGNIFICANT
• Reconsider assumption if significant

• Degree of freedom = number of comparisons

made  number of classes of data – 1
• E.g. 4 possible phenotypes.
• So df = 4 – 1= 3
• Lastly look at the table  decide sig/not
 Mutations
• Difference alleles contains slightly different
sequence of bases (mutations)
• Unpredictable change in genetic material
of an organism
• Gene mutation = change in DNA structure
• Remember: mutations can also change
structure/number of chromosome =
chromosome mutations
• Occurs randomly
• Can be induced
• Ionizing radiation (α, β, γ)
• UV mutagen –
Mustard gas cause mutation

• Base substitution – 1 base takes place of another

base
• Base addition – 1 or more bases added
• Base deletion - 1 or more bases are lost
• Base addition/deletion  significant effect
on structure/function of polypeptide
because they alter every set of 3 bases
 frame shift
• Useless protein synthesized, stop codon
may take place

• Base substitution – often have no effect

(silent mutation)
• Many AA have more than 1 triplet code
• Can cause large effect by stop triplet!
 Sickle cell anemia
• Base substitution effects
• Hb made from 2 alpha and 2 beta
• Gene that codes for beta chain can be
faulty

• Normal = val-his-leu-thr-pro-glu-glu-lys
• SCA = val-his-leu-thr-pro-val-glu-lys

• Makes Hb less soluble (not with oxygen)

• Hb stick to each other  long fibres in
RBC

• RBC becomes sickle shape

• Less efficient in transporting O2

• Stuck in small capillaries

• Death due to lack of O2

 Phenylketouria (PKU)
• Abnormal base sequence
• Gene that codes for phenylalanine
hydroxylase get affected
• Catalyze conversion of phenylalanine 
tyrosine  melanin
• Phenylalanine found in food
• Melanin  brown pigment in skin
• PKU patients have lighter skin/hair colour
(less melanin produced)
• Phenylalanine accumulates in blood/tissue
fluid (cause brain damage/mentally
retarded children)

• PKU children should eat phenylalanine

free-diet

• Human Genome Project

 Environment and phenotype
• Not necessary genotype always affect its
phenotype in the same way

• e.g. height.
• Although we have the tall gene, if a poor diet
taken, we will be short (lack of nutrients
don’t allow your bones to grow)
 Gene technology

• It is possible to change the DNA in a cell

• Change the proteins which that cell

produces

• Genetic engineering
 Insulin production
• Diabetic patients need insulin injection
(extracted from pancreas of pigs/cattle)

• Expensive/human don’t prefer animal insulin

(side effects)

• 1970s – insert gene for human insulin into

bacterium, then using it to produce insulin
 Step 1: Isolating insulin gene
• Suppose to isolate the gene coding for
human insulin (problem!)
• So, mRNA carrying the code for making
insulin was extracted from β cells in human
pancreas
• mRNA was incubated with reverse
transcriptase (from retrovirus)  reverses
transcription causing DNA to be made from
RNA
• Complimentary DNA (cDNA) formed from
the mRNA from the pancreas

• Single stranded molecules formed 

double stranded DNA (carries code for
insulin)

• These ‘magical’ genes given sticky ends so

that they stick/intergrate onto other DNA
• Adding single-strand DNA (guanine
nucleotides) to each end using enzymes
 Inserting gene into vector
• Vector (plasmid) used to insert gene into
bacterium
• To get plasmid, bacteria treated with
enzymes to break their cell walls 
centrifuged
• Plasmid cut open with restriction enzyme
• Stick ends added (cytosine)
• Cut plasmid + cut human DNA mixed
• Nucleotide backbones linked with DNA ligase
 recombinant DNA
 Inserting gene into bacteria
• Plasmid + bacteria (E.coli)
• Only small proportion of E.coli will take up
the recombinant plasmid

• These E.coli separated from others with

antibiotic resistance (a gene introduced at
the same time as the human insulin gene)
• Bacteria + antibiotic = E.coli that have
resistance gene (hence the insulin gene)
survive
• These bacteria are cultured in large scale

• Insulin secreted, extracted, purified, sold!!!

• Recombinant insulin
 Other uses of gene technology

• Human growth hormone

• Biological washing powders (enzymes)
• Gene therapy (treat genetic diseases)
• Human factor VIII (blood clotting)
• Plants (resistance to pests)

• Side effects???
 Benefits of genetic engineering

• We can create GMO for specific uses

• MO can produce many substances than

before

• Crops that have Bacillus thuringiensis gene

produce their own insecticides
 Hazards
• Breach of containment

• Discussion: safe or unsafe?

• Resistance
 Ethical implications of genetic
engineering
• Standards by which a particular group of
people agree to regulate their behavior,
distinguishing an acceptable from an
unacceptable activity

• Change with time

• Discuss