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CH 13 - Mendelian Genetics
CH 13 - Mendelian Genetics
Department of Biotechnology
Program: B Tech
Course Title: BIOLOGY FOR ENGINEERS
Course Code: A4503
Course Type: FC
Course Presenter: Prof. Renuka Madhu & Dr. Ramya M
Course Mentor: Prof. Renuka Madhu & Dr. Ramya M
Semester: & Section: II SEM
Academic Year: 2020-2021
Course Pre-requisites: • Prior knowledge of basic concepts in Biology
L T P: 1:0:0
Pedagogy: (ICT)
Course Objectives:
1. To inculcate the basic concepts of biology from engineering perspective among students
2. To understand the interplay between biology and engineering disciplines
3. To conceptualize the engineering design/process/product for life science challenges
Course Outcomes:
1. Science knowledge: Demonstrate of the knowledge in various domains of life sciences including healthcare
considering public health and safety, and the cultural, societal, and environmental concerns.
2. Problem analysis: Identify, formulate and analyze problems related to the various domains of Biotechnology such
as Environmental Biotechnology, Agricultural Biotechnology, Genetic Engineering, Forensic Biology and Nano
Biotechnology.
3. Conduct investigations of complex problems: Use research-based knowledge including design of experiments,
analysis and interpretation of data, and synthesis of the information to provide valid conclusions.
4. Modern tool usage: Create, select, and apply appropriate techniques, resources, and modern technology for
product/process development which in turn benefit the society.
5. Environment and sustainability: Understand and implement environmental friendly approaches in Biotechnology
to support sustainable development.
6. Ethics: Apply ethical principles and commit to professional ethics, responsibilities and norms in Life Sciences.
Reference Books:
1. Biology for Engineers, G.K. Suraishkumar, Oxford University Press, 2019
2. Biology for Engineers, As per AICTE curriculum, Wiley publication,
3. Biology for Engineers, Dr.Sohini Singh, Dr.Tanu Allen, Vayu Education of India.
E-Resources:
https://www.statedclearly.com/videos/what-was-the-miller-urey-experiment/
1. Cell Biology, Genetics, Molecular Biology, Evolution and Ecology by P.S.Verma and V.K. Agarwal, 2018
2. Handbook of Genetics, Sambamurthy, Friends Publisher, 2010
Mendel
• Modern genetics had its beginnings in an abbey garden,
where a monk named Gregor Mendel documented a
particulate mechanism of inheritance.
Went to the university of Vienna, where he studied botany and learned the
Scientific Method
Worked with pure lines of peas for eight years Prior to Mendel, heredity was
regarded as a "blending“ process and the offspring were essentially a "dilution"of
the different parental characteristics.
Mendel’s work
• In order to study inheritance, Mendel chose to use
peas, probably as they are available in many
varieties.
• Recessive Gene
• The gene that is overshadowed by a dominant gene.
Examples of Genotypes
• There are three basic genotypes for a particular character:
• AA = homozygous dominant
• Aa = heterozygous
• aa = homozygous recessive
Phenotypes
A A
a
a
Traits for color
Punnett Square Example Cont..
A A
a Aa Aa
a Aa Aa
LAW OF SEGREGATION
When two traits are considered with 4 alleles, each allele assort/separate irrespective of the
other 3 alleles i.e., they assort independently.
3. cardiovascular system
• fragmentation of elastic fibers in tunica media
- aorta
• aneurysmal dilatation - aortic dissection -
rupture (35-45% of pts.)
• incompetence (dilatation) - aortic valve
• tricuspidal and/or mitral valve - floppy valve
Ehlers-Danlos syndrome
• similar to Marfan syndrome
• genetic defect of collagen fibrils - several types - both autosomal
dominant and recessive
• hyperextensibility of skin, hypermobility of joints - contortionist!
• joint dislocations, vulnerability
• rupture of large vessels, colon, cornea
2. Autosomal recessive
• majority of mendelian disorders
• only homozygotes are affected, heterozygotes (parents) are only
carriers
• 25% of descendants are affected
• if the mutant gene occurs with low frequency - high probability in
consanguineous marriages
• onset of symptoms often in childhood
• frequently enzymatic defect
• testing of parents and amnial cells
Cystic fibrosis
• 1:2000 live births - most common lethal genetic disease in white
population
• defect in the transport of chloride ions across epithelia - increased
absorption of Na+ and water to the blood
• widespread defect in the exocrine glands - abnormally viscid mucous
secretions
• blockage of airways, pancreatic ducts, biliary ducts
• Pancreatic abnormalities (85%) - dilatation of
ducts, atrophy of exocrine part, fibrosis
• Pulmonary lesions - dilatation of bronchioles,
mucus retention, repeated inflammation,
bronchiectasis, lung abscesses, emphysema and
atelectasis (100%), cor pulmonale chronicum
• GIT - meconium ileus (newborns) (25%), biliary
cirrhosis (2%)
• Male genital tract - sterility (obstruction of vas
deferens, epididymis, seminal vesicles) (95%)
Clinical symptomatology
• recurrent pulmonary infections
• pancreatic insufficiency, malabsorption syndrome (large, foul stool),
hypovitaminosis A, D, E, K, poor weight gain
• high level of sodium in the sweat - "salty" children - mother's
diagnosis
• death usually in 3. decade due to respiratory failure
Phenylketonuria (PKU)
• absence of enzyme phenylalanine-hydroxylase (PAH) Phe -
>Tyr
• increase of plasmatic Phe since birth - rising levels - impairs
brain development
• after 6M - severe mental retardation - IQ under 50
• decreased pigmentation of hair and skin - absence of Tyr
• EARLY SCREENING TEST!!!
• DIET!!!
• mothers with PKU - increased levels of Phe - transplacental
transport - child with severe mental defect (although
heterozygous!) - maternal PKU - DIET!!!
Galactosemia
• defect of galactose metabolism
• lactose -> Gal+Glc
• Gal -> Glc - defect - accumulation of Gal in blood
• liver, eyes, brain are affected
• hepatomegaly (fatty change - fibrosis - cirrhosis)
• lens - opacification - cataracts
• brain - loss of neurons, gliosis, edema
• Symptomatology - from birth
• vomiting, diarrhea, jaundice, hepatomegaly
• later - cataracts, mental retardation
• DIET!
Glycogen storage diseases (glycogenoses)
• deficiency of any one of the enzymes involved in degradation or
synthesis
• depending on the type of defect - tissue distribution, type of
accumulated product
• 12 forms - most important:
• type I. - von Gierke disease - hepatorenal type
• type II. - Pompe disease - generalized type (liver, heart, skeletal
muscle)
• type V. - McArdle syndrome - skeletal muscle only
• biopsy: PAS, Best's carmine
Lysosomal storage diseases
• defect of lysosomal enzymes, hydrolyzing various substances (a.o.
sphingolipids, mucopolysacharides) - storage of insoluble metabolites
in lysosomes
• extremely rare
Sphingolipidoses
• more frequent in Ashkenazi Jews
Gaucher disease
• defect of glucocerebrosidase - 3 types (type 1 - survival, type 2 -
lethal, type 3 - intermediate)
• accumulation of glucocerebroside (Glc-ceramide) - kerasin
• Gaucher cells - spleen (red pulp), liver (sinuses), bone marrow
Niemann-Pick disease
• defect of sphingomyelinase
• accumulation of cholesterol and sphingomyelin in spleen, liver, BM,
LN, lungs - massive visceromegaly
• CNS (foamy cells) - severe neurological deterioration
• death during first 4-5 years
Tay-Sachs disease (gangliosidosis)