Lecture 3

Lab1

Genomics and Proteomics

Dr. Asma Ahsan

GENOM7013

Monday 19-10-20
 Organization of genome
• Difference between prokaryotes and eukaryotes
genomes

• Small
• Circular
• Haploid
• No histones

• Human ̴ 23000 genes

• Bacteria ̴ 1500-2000 genes
Chromosomes at different phases of
cell cycles
Packaging of human genome
 Structural classification of chromosome

https://web.facebook.com/watch/?v=2120211
66121683
Structural components of a chromosome

• Constitutive
heterochromatin
• Eu chromatin
Structural components of a chromosome
Constitutive heterochromatin
Euchromatin
Structural components of a chromosome

• Histones
• Non histones
Scaffold proteins
DNA polymerase
Heterochromatin Protein 1
Polycomb
Repeat elements in Eukaryotic DNA

LINE 1
 LINE1
• 6.1kb
• ORF1-p40
• ORF2- Endonuclease, reverse transcriptase

• Haemophillia A
 SINE

• Alu repeats, had cleavage site for Alu RE

• 200-300 bp
• Repeated million times
• 10% of the genome
• 5000bp away from the other Alu repeat
 Transposons

• Jumping genes
• LINEs don’t have LTRs
• SINEs don’t have enzymes for movement
Tendem repeats
Components of human genome
Comparison of gene segments
Genome mapping
• Locus
• Distance between the genes
• Genetic map----
• Physical map----Number of base pairs
 Genome mapping
• TH morgan---- genes travel on
chromosomes

• Genes from one chromosome

swap position on the other
chromosomes: crossing over
 Genetic mapping
Genetic mapping looks at how genetic information is shuffled
between chromosomes or between different regions in the
same chromosome during meiosis--recombination or ‘crossing
over’.
Genetic recombination leads to genetic mapping
 Linkage map and linkage distance
A map of where the genes are in relationship to
each other on the chromosomes are.
Genes that are on the same chromosome are
said to be ‘linked’ and the distance between
these genes is called a ‘linkage distance’.
If two (or more) characteristics were seen to be frequently
inherited together in a family, for example blonde hair and blue
eyes, it suggested that the genes for the two characteristics
were close together on a particular chromosome.
 Alfered sturtvert
Fruit fly genetics

Map units
CentiMorgan
One chromosome 50MU
• Genetic mapping can be conducted only with
large numbers of readily identified
polymorphic loci.
Genetic mapping
 DNA markers for genetic mapping
• RFLP
• RAPD
• AFLP
• VNTRs
• STS
• Microsatellites
• SNPs
 ----
• If a particular gene is close to a DNA marker on the
chromosome, it is more likely that the gene and marker
will stay together during the recombination process
and are therefore more likely to be passed down along
the family line
• If a DNA marker and gene are frequently separated by
the recombination process it suggests that they are far
apart on the chromosome and are less likely to be
inherited together.
• The more DNA markers there are on a genetic map the
more likely it is that one of them will be located close
to the disease or trait-associated gene.
 Restriction fragment length
polymorphism (RFLPs)
• Molecular marker
• Co-dominant
• Restriction digestion---fragments of different
lengths

• Mutation---- Addition, deletion, duplications

• Fragment size based analysis
Steps in RFLP analysis
1: Normal individual
2: Diseased
3: Diseased
4: Diseased
Example of phenotypic genetic markers

• Haemophillia A
• Wrinkled pea
• Pedigrees
RFLP and hemophilia
• RFLP loci are inherited in a strictly Mendelian
manner, and the inheritance of an RFLP locus can
be traced within a pedigree.
• The determination of the alleles of an RFLP locus
in an individual is called haplotyping (genotyping,
DNA typing).
• When two or more linked RFLP loci are followed
in a pedigree,it is possible to determine the
occurrence of a recombination event.
Activity