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Human Genome

The human genome project aimed to determine the sequence of the 3 billion nucleotides that make up human DNA and identify all human genes. Scientists sequenced each chromosome by cleaving fragments, cloning them, and using automated machines to sequence the overlapping regions. This identified approximately 20,000-25,000 genes in the human genome. DNA fingerprinting uses gel electrophoresis to generate unique banding patterns that can identify victims, determine paternity, and identify soldiers. Microarrays allow large amounts of genetic information to be stored on small slides and help determine if gene expression is affected by genetic or environmental factors. The HapMap project created a catalog of common genetic variations in humans to help identify genes associated with disorders and enable personalized drug dosing.

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Debarshi Sahoo
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52 views5 pages

Human Genome

The human genome project aimed to determine the sequence of the 3 billion nucleotides that make up human DNA and identify all human genes. Scientists sequenced each chromosome by cleaving fragments, cloning them, and using automated machines to sequence the overlapping regions. This identified approximately 20,000-25,000 genes in the human genome. DNA fingerprinting uses gel electrophoresis to generate unique banding patterns that can identify victims, determine paternity, and identify soldiers. Microarrays allow large amounts of genetic information to be stored on small slides and help determine if gene expression is affected by genetic or environmental factors. The HapMap project created a catalog of common genetic variations in humans to help identify genes associated with disorders and enable personalized drug dosing.

Uploaded by

Debarshi Sahoo
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© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Section 3: Human Genome

 Genome: the total DNA present in the nucleus of each cell.

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Q: what are the goals of the human genome project (HGP)?
1) To determine the sequence of three billion nucleotides that make up human DNA.
2) To identify all of the human genes.

Q: How many nucleotides that make up human DNA.? Three billion nucleotides.
Q: how many genes found in humans? Approximately 20,000–25,000
Q: Did the human genome project (HGP) finish? Yes; but it will take many years to study it.
Q: how many chromosomes found in humans? 46

Sequencing genome

Q1: what are the steps of sequencing genome?

1) Each of the 46 human chromosomes was cleaved.


2) These fragments were combined with vectors to create recombinant DNA, cloned to make
many copies, and sequenced using automated sequencing machines.
3) Computers analyzed the overlapping regions to generate one continuous sequence.

DNA fingerprinting

 DNA fingerprinting: distinct banding patterns that are unique to every individual.

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Q: how is DNA fingerprinting made? By using gel electrophoresis.

Q: what are the uses of DNA fingerprinting?

1) Identify victims in crimes.


2) Determine paternity.
3) Identify soldiers killed in wars
Identifying genes

 Codon: a group of three nucleotides that code for an amino acid.


 ORFs: stretches of DNA that contain at least 100 codons that begin with a start codon and
end with a stop codon.
 Bioinformatics: creating and maintaining database of biological information.

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Q: What is the next before identifying genes? Sequencing genome.

Q: What is the next step after sequencing genome? Identifying genes.

Q: how do scientists identify genes? by using Open Reading Frames (ORFs).

Q: what is the result of using Open Reading Frames? Identifying 90% of the genes of
bacteria and yeasts.

Q: what is a codon made of? 1) three nucleotides 2) start codon AUG


3)stop codon UAA or UGA or UAG.

Q: What does codon code for? An amino acid.

DNA Microarrays

 Microarrays: Tiny microscope slides or silicon chips that are spotted with DNA fragments.

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Q2: what are the uses of DNA Microarrays?

1) Store large amount of information on small slide.


2) Help researchers determine whether the expression of certain genes is caused by
genetic factors or environmental factors.
Q: what are the steps involved in doing DNA microarrays experiment?

1) Extract mRNA from cells and purify it.


2) Convert mRNA into complementary DNA (cDNA) using reverse transcriptase enzyme.
3) Synthesis cDNA: add green fluorescent dye to cell without cancer and red fluorescent dye
to cell with cancer.
4) Mix DNA from both groups.
5) Allow microarray and mixed cDNA to grow in warm environment.
6) Examine completed DNA microarray.
Genomics and proteomics

 Single nucleotide polymorphisms (SNPs): Variations in the DNA sequence that occur when
a single nucleotide in the genome is altered.

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Q: What is the similarity percentage of nucleotides base sequences in all humans? 99 %
Q: when is a variation considered SNPs? It must occur in at least 1% of the population.
Q: do SNPs affect cell function? No.
Q: what is the advantage of SNPs? identify many genes associated with many different types
of genetic disorders.

The HapMap project

 HapMap project: international group of scientists that create a catalog of common genetic
variation that occur in humans.
 Haplotypes: regions of linked variations in the human genome.
 Pharmacogenomics: study of how genetic inheritance affects the body’s response to
drugs.
 Gene therapy: technique aimed at correcting mutated genes that cause human diseases.
 Genomics: study of an organism’s genome.
 Proteomics: the large-scale study and cataloging of the structure and function of proteins
in the human body.
 Proteome: all the proteins found in a cell.

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Q: what is the goal of the HapMap project? create a catalog of common genetic variation that
occur in humans.
Q: what are the benefits of Pharmacogenomics? To get safer and more specific dosing of
drugs.
Q: give some diseases treated by genes nowadays? Diabetes, cancer, obesity, retinal diseases
and Parkinson’s disease.
Q: compare genes and proteins?

Genes are the primary information storage units.


Proteins are the machines of a cell.

Q: what does the figure show? Information in genes flows from DNA to RNA and RNA to
protein.

Q: what is occurring in the last of the figure show? Protein synthesis.

Q: what are the uses of proteomics?

1) Allow researchers to look at thousands of proteins at the same time.


2) Find new drugs to treat type II diabetes, obesity and atherosclerosis.

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