1 Part1

Medical biotechnology lec: 1
What is biotechnology?
Biotechnology: bio - the use of biological processes; technology
- to solve problems or make useful products.
Pre-History:
•10,000 years ago - humans domesticate crops and livestock.
• 6,000 years ago - Biotechnology first used to leaven bread and
ferment beer, using yeast (Egypt).
•6,000 years ago - Production of cheese and fermentation of
wine (Sumeria, China and Egypt).
•2,500 years ago - First antibiotic: moldy soybean curds used to
treat boils (China).
History of biotechnology
Since thousands of years humans are trying to employ the
natural biological processes for their benefits:
1. Production of food 2. Treatment of diseases
•Hence, genetically modified organisms(GMO) are not the
results of recent biotechnological development – all cultivated
plants and animals are the result of genetic modification
1797 - Jenner inoculates a child with a viral vaccine to protect
him from smallpox.
1919 - First use of the word biotechnology in print.
1928 - Penicillin discovered as an antibiotic: Alexander
Fleming.
1938 - The term molecular biology is coined.
1941 - The term genetic engineering is first used, by Danish
microbiologist A. Jost in a lecture on reproduction in yeast at the
technical institute in Lwow, Poland.
1942 - Penicillin mass-produced in microbes.
1944 - Waksman isolates streptomycin, an effective antibiotic
for tuberculosis.
Medical biotechnology is the use of organisms and organisms-

derived materials for research and to produce diagnostic and
therapeutic products that help to treat and prevent human
diseases.
Divisions of biotechnology
•The medical biotechnology field has helped bring to market

microbial pesticides, insect-resistant crops, and environmental
clean-up techniques.
Aims of medical biotechnology
Application of biotechnology for human health
1. Prevention of diseases
2. Diagnostic of diseases
3. Treatment of diseases
•All those aspects are strongly related to basic research –
investigation on the mechanisms of diseases.
•elucidation of the molecular structure of the genome including
its nucleotide sequence is fundamental to understanding the
molecular pathogenesis of human diseases”
Genomic and genetic determinants of phenotype (and diseases)
Complexity of human genome

„Despite its apparent simplicity, the genome is a complex
structure. The complexity is far beyond the primary base
sequence of the genome. DNA is a large macromolecule that
requires a complex system to orchestrate its compaction inside
the nucleus in a manner that selected genes are accessible to
specific DNA processing enzymes, such as polymerases, in an
orderly and dynamic fashion, as demanded by the cell in
response to internal and external stimuli. Thus, understanding
the functional content of the genome necessitate knowledge
beyond the complete genome sequence. Based on today’s
knowledge, only 1% of the human genome is transcribed into
mRNA and translated into proteins. An additional 0.5%
serves as a template for noncoding RNA and the regulatory
regions that control gene expression. The functions of the
remaining 98.5% of the genome including functional conserved
noncoding elements, which comprise at least 6% of the genome,
remain unknown. Hence, this large segment of the genome is
referred to as the dark matter of the genome. The discoveries of
noncoding RNA, microRNA, splice variants, and regulatory
elements in trans point to the complex mechanisms by which the
genome governs various biological processes, including
phenotypic expression of diseases” (see previous slide).
Genetic nature of diseases
Diseases
1.Monogenic diseases inherited
2. Polygenic diseases – acquired
•The estimated heritability of common complex diseases,
defined as a proportion of the phenotypic variance accounted for
by genetic factors, varies from 20% to 80%, depending on the
phenotype and study characteristics”
•complex diseases result from the cumulative and interactive
effects of a large number of loci, each imparting a modest
marginal effect on expression of the phenotype”
Tools and products of medical biotechnology
1. Prevention
2.Diagnostics at the nucleic acid level
3.Treatment
2.1. application of recombinant DNA technology for drug
development
2.2. treatment at the nucleic acid level and by means of nucleic
acids
2.2.1. genetic therapy
2.2.2. cell therapy
2.2.3. biomedical engineering
Prevention measures can be implemented at different stages of
disease
1. Primary - promoting health prior to development of disease or
injury - immunization; health promotion campaings
2. Secondary – detecting disease in its early (asymptomatic)
stage - screening case finding, detection
3. Tertiary – reversing, arresting or delaying the progression of
the disease - preventing complication of chronic diseases such as
diabetes including rehabilitation
4. Quaternary – avoiding consequences related to
overmedication, overdiagnosis or incidental findings, eg.
imaging - availability of medical based information from the
internet - direct-to-consumer DNA genetic testing
Genetic tests – detection of diseases
1. Cytogenetic analysis – chromosomes
2. Detection of mutations
- restriction enzymes & related techniques
- hybridisation: Southern blotting, Northern blotting
3. PCR technology
4. Sequencing
Cytogenetic diagnosis - chronic myeloid leukemia
Labeling of nucleic acids to detect mutations
Detection of specific RNA or DNA molecules by gel-transfer

hybridization
Restriction enzymes for molecular diagnostics
Application of Southern blotting for disease detection

Detection of the sickle-cell globin gene by Southern blotting.
The base change (A → T) that causes sickle-cell anemia
destroys an MstII target site that is present in the normal β-
globin gene. This difference can be detected by Southern
blotting. (Modified from Recombinant DNA, 2d ed. Scientific
American Books. Copyright © 1992 by J. D. Watson, M.
Gilman, J. Witkowski, and M. Zoller.) From:
Using Recombinant DNA to Detect Disease Alleles Directly
Copyright © 1999, W. H. Freeman and Company.
Polymerase chain reaction
Cystic fibrosis – mutations in CFTR gene
Cystic fibrosis transmembrane conductance regulator 168 kDa
protein; 1480 aa residues CFTR codes for a chloride ion channel
Over 1500 mutations produce CF; deltaF508 (D508) is the most
common (in exon 10, interferes with ATP binding)
deltaF508 mutation – deletion of one codon leading to loss of

phenylalanine in amino acid position 508.
Detection of mutation by PCR
Polymerase chain reaction
1. Classical PCR 2. real-time PCR
RFLP combined with PCR
Techniques used for detection of mutations

Genetic tests and risks of diseases
The purposes of DNA tests

Genetic tests
1.Preimplantation – after in vitro fertilisation
2.Prenatal diagnostics
3.Postnatal diagnostics
Preimplantation diagnostics

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Medical biotechnology lec: 1

Medical biotechnology is the use of organisms and organisms-

•The medical biotechnology field has helped bring to market

Complexity of human genome

Detection of specific RNA or DNA molecules by gel-transfer

Application of Southern blotting for disease detection

deltaF508 mutation – deletion of one codon leading to loss of

Techniques used for detection of mutations

The purposes of DNA tests

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