28/08/2020
What is genetics?
Transmission genetics
• Classical or Mendelian genetics
• transmission of genes and
chromosomes from one generation to
the next
• genes are identified by studying the
inheritance of trait differences
Molecular genetics
• chromosomes, DNA, regulation of gene
expression
• recombinant DNA, biotechnology,
bioinformatics, genomics, proteomics
What is a gene?
• A unit of inheritance
• A specific location on a
chromosome
• A sequence of base pairs
5
Population, evolutionary
genetics
• Allelic frequencies in populations
• study relatedness of taxa via
DNA and protein analysis
• Quantitative genetics
• inheritance of complex traits -
effects of many genes
• How variation in genotypes
leads to variation in
phenotype
• Transcribed into RNA
• Encodes a protein
• The specifier of a phenotype
1
 28/08/2020

Each 3 nucleotide
specifies a specific
amino acid. These are
called codons

Several genes may encode one protein

2
 28/08/2020

One gene may encode different protein

Exons Introns

Gene

Different isoforms

Not all genes encode proteins

Genome

Protein
coding
mRNA  Protein
< 3%

House keeping ncRNAs

Transcriptome rRNA, tRNA, snRNA, snoRNA
Non-coding
> 80%
Regulatory ncRNAs
Short ncRNAs (< 200 nt)
Long ncRNAs (> 200 nt)

3
 28/08/2020

10

Genetic Variation
SNP (single nucleotide polymorphism)

GGACGATTACTTGAATATACGAGGCTAG
a CCTGCTAATGAACTTATATGCTCCGATC
A GGACGATTACTTGACTATACGAGGCTAG
CCTGCTAATGAACTGATATGCTCCGATC
Although most individuals within a species have very similar DNA
sequences, each individual has a unique set of genetic differences.

Observing how these differences affect an individuals and how they are
transmitted across generations is the science of Genetics.

10

11

DNA Sequence Variation

Haploid genome= 23 chromosomes= 3 billion (3,000,000,000) base pairs of DNA = 25,000 genes

Tumor/cancer
cells
Any two unrelated people
differ by about 0.1%.
~3,000,000 differences
Somatic mutation slowly
accumulate in every person.
Chimps & humans differ by
Genes controlling cell division are
about 1% of DNA sequence. sometimes hit.
~30,000,000 differences ~500 changes/cell

11

4
 28/08/2020

12

Genes are located on chromosomes

p arm (petit) Each chromosome contains

many genes that are responsible
(short) for different traits.

A Genes
q arm
B
(long) C

12

13

Chromosome vs chromatid
Duplicated chromosome Unduplicated chromosome

Non-sister
chromatids
Chromatid

sister chromatids
Homologous Pair

Homologous Pair

13

5
 28/08/2020

Chromosome number: Ploidy

14

Haploid Diploid Polyploid

1 copy each 2 copies each Many copies of

chromosome chromosome each chromosome

Bacteria, Some yeast, Most cells we work Often found in giant cells
Oocytes, sperm, Pollen with regularly with specialized functions.
(Gametes)
14

15

Sexual reproduction and Meiosis

15

6
 28/08/2020

16

Genes vs Alleles
Alleles are differing variant Genes can have several alleles
forms of a gene.
Gene 1 Gene 2 Gene 3 Allele 1

Allele 2

Allele 3

Allele 4
Allele ♀ Allele ♀ Allele ♀
Allele ♂ Allele ♂ Allele ♂ Allele 5

16

17

Genes vs Alleles
Alleles can yield slightly different proteins

Allele HbA Allele HbS

17

7
 28/08/2020

18

Genotype vs Phenotype
Genotype: A list of alleles carried Phenotype: The observable/measurable
by a specific individual characteristics of an individual

Normal red Sickle shaped

blood cell red blood cell

18

19

Dominant vs Recessive
Dominant Allele Recessive Allele
• Always produces a certain • Does not produce phenotype if
phenotype regardless of other dominant allele is present
alleles (masked by the dominant allele)
• Represented with capital letters • Represented with small letters

• A, T, B, W • a, t, b, W+

19

8
 28/08/2020

20

Allele similarity: Zygosity

Homozygous Heterozygous Hemizygous
Individual has two copies of same Individual has two different Individual had only a single allele
allele of a gene alleles of a gene on a pair present in otherwise diploid cell

A A a a A a A a Del

X Y

20

21

Alleles  Genotype  Phenotype

Alleles Genotypes Phenotypes

Dominant allele
BB
B– Brown eyes

Bb
Recessive allele
b – Blue eyes bb
21

9
 28/08/2020

22

A cassette is a large bundle of

tape containing many tracks.
It is like a… chromosome

The tape contains One song or track on

recorded the tape is like Different versions of B b
information…DNA a…gene the same song are
like… alleles

22

10