The document discusses the genetic code and mutations. It describes key discoveries such as the experiments demonstrating that codons consist of three DNA bases and the identification of the first genetic codes. It defines terms like codon, codon table, degenerate codons. It describes types of mutations like substitutions, insertions, deletions and their effects. It discusses mutagens like radiation, chemicals, and their mechanisms. It provides clinical examples of mutations causing conditions like sickle cell anemia, thalassemia, cystic fibrosis.
Genetic code, Deciphering of genetic code, properties of genetic code, Initiation & termination of codons, Gene Mutation, non sense codon, release factors, Transition , Trans versions
Genetic code, Deciphering of genetic code, properties of genetic code, Initiation & termination of codons, Gene Mutation, non sense codon, release factors, Transition , Trans versions
A lipid is chemically defined as a substance that is insoluble in water and soluble in alcohol, ether, and chloroform. Lipids are an important component of living cells. Together with carbohydrates and proteins, lipids are the main constituents of plant and animal cells. Cholesterol and triglycerides are lipids.
it describes transcription with simple diagram and animation. its steps and inhibitors are described for both eukaryotes and prokaryotes. it will be easily understood by UG students . post transcriptional modification of all the RNA are also described with diagrams.
Introduction
History
Experiment of Ramachandran
Structure of protein
Primary structure
Secondary structure
Tertiary structure
Quaternary structure
Peptide bond is rigid & planar
Torsion angle (Φ and Ψ)
Ramachandran plot
For helices
For β strands
Significance of Ramachandran plot
Conclusion
Reference
A lipid is chemically defined as a substance that is insoluble in water and soluble in alcohol, ether, and chloroform. Lipids are an important component of living cells. Together with carbohydrates and proteins, lipids are the main constituents of plant and animal cells. Cholesterol and triglycerides are lipids.
it describes transcription with simple diagram and animation. its steps and inhibitors are described for both eukaryotes and prokaryotes. it will be easily understood by UG students . post transcriptional modification of all the RNA are also described with diagrams.
Introduction
History
Experiment of Ramachandran
Structure of protein
Primary structure
Secondary structure
Tertiary structure
Quaternary structure
Peptide bond is rigid & planar
Torsion angle (Φ and Ψ)
Ramachandran plot
For helices
For β strands
Significance of Ramachandran plot
Conclusion
Reference
RNA- A polymer of ribonucleotides, is a single stranded structure. There are three major types of RNA- m RNA,t RNA and r RNA. Besides that there are small nuclear,micro RNAs, small interfering and heterogeneous RNAs. Each of them has a specific structure and performs a specific function.
Alterations in the DNA code, such as changing a letter, deleting a letter, inserting a letter or moving sections aroun proteins with abnormal functions.
If these abnormal functions cause the cell to grow, divide, ignore regulatory signals or assume new functions, cancers can develop
Fortunately, normal cells are good at repairing mistakes should they occur and have multiple systems for ensuring that the DNA co transmitted to its two daughter cells when it divides. Normal cells even have suicide programs if the mistakes are beyond repair, a p death, known as apoptosis. [Source: https://www.loxooncology.com/genomically-defined-cancers/genomic-alterations]
RNA splicing mutations and human disease: Pompe disease - Emanuele Buratti
Convegno del 25 novembre "Diagnosi e management della glicogenosi tipo 2" - Centro di coordinamento regionale malattie rare FVG
The Information Content of DNA and the Language of Life The code used to translated DNA to RNA to Protein could not have evolved but must have been created.
Anti ulcer drugs and their Advance pharmacology ||
Anti-ulcer drugs are medications used to prevent and treat ulcers in the stomach and upper part of the small intestine (duodenal ulcers). These ulcers are often caused by an imbalance between stomach acid and the mucosal lining, which protects the stomach lining.
||Scope: Overview of various classes of anti-ulcer drugs, their mechanisms of action, indications, side effects, and clinical considerations.
Title: Sense of Smell
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the primary categories of smells and the concept of odor blindness.
Explain the structure and location of the olfactory membrane and mucosa, including the types and roles of cells involved in olfaction.
Describe the pathway and mechanisms of olfactory signal transmission from the olfactory receptors to the brain.
Illustrate the biochemical cascade triggered by odorant binding to olfactory receptors, including the role of G-proteins and second messengers in generating an action potential.
Identify different types of olfactory disorders such as anosmia, hyposmia, hyperosmia, and dysosmia, including their potential causes.
Key Topics:
Olfactory Genes:
3% of the human genome accounts for olfactory genes.
400 genes for odorant receptors.
Olfactory Membrane:
Located in the superior part of the nasal cavity.
Medially: Folds downward along the superior septum.
Laterally: Folds over the superior turbinate and upper surface of the middle turbinate.
Total surface area: 5-10 square centimeters.
Olfactory Mucosa:
Olfactory Cells: Bipolar nerve cells derived from the CNS (100 million), with 4-25 olfactory cilia per cell.
Sustentacular Cells: Produce mucus and maintain ionic and molecular environment.
Basal Cells: Replace worn-out olfactory cells with an average lifespan of 1-2 months.
Bowman’s Gland: Secretes mucus.
Stimulation of Olfactory Cells:
Odorant dissolves in mucus and attaches to receptors on olfactory cilia.
Involves a cascade effect through G-proteins and second messengers, leading to depolarization and action potential generation in the olfactory nerve.
Quality of a Good Odorant:
Small (3-20 Carbon atoms), volatile, water-soluble, and lipid-soluble.
Facilitated by odorant-binding proteins in mucus.
Membrane Potential and Action Potential:
Resting membrane potential: -55mV.
Action potential frequency in the olfactory nerve increases with odorant strength.
Adaptation Towards the Sense of Smell:
Rapid adaptation within the first second, with further slow adaptation.
Psychological adaptation greater than receptor adaptation, involving feedback inhibition from the central nervous system.
Primary Sensations of Smell:
Camphoraceous, Musky, Floral, Pepperminty, Ethereal, Pungent, Putrid.
Odor Detection Threshold:
Examples: Hydrogen sulfide (0.0005 ppm), Methyl-mercaptan (0.002 ppm).
Some toxic substances are odorless at lethal concentrations.
Characteristics of Smell:
Odor blindness for single substances due to lack of appropriate receptor protein.
Behavioral and emotional influences of smell.
Transmission of Olfactory Signals:
From olfactory cells to glomeruli in the olfactory bulb, involving lateral inhibition.
Primitive, less old, and new olfactory systems with different path
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
Follow us on: Pinterest
Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
Couples presenting to the infertility clinic- Do they really have infertility...Sujoy Dasgupta
Dr Sujoy Dasgupta presented the study on "Couples presenting to the infertility clinic- Do they really have infertility? – The unexplored stories of non-consummation" in the 13th Congress of the Asia Pacific Initiative on Reproduction (ASPIRE 2024) at Manila on 24 May, 2024.
HOT NEW PRODUCT! BIG SALES FAST SHIPPING NOW FROM CHINA!! EU KU DB BK substit...GL Anaacs
Contact us if you are interested:
Email / Skype : kefaya1771@gmail.com
Threema: PXHY5PDH
New BATCH Ku !!! MUCH IN DEMAND FAST SALE EVERY BATCH HAPPY GOOD EFFECT BIG BATCH !
Contact me on Threema or skype to start big business!!
Hot-sale products:
NEW HOT EUTYLONE WHITE CRYSTAL!!
5cl-adba precursor (semi finished )
5cl-adba raw materials
ADBB precursor (semi finished )
ADBB raw materials
APVP powder
5fadb/4f-adb
Jwh018 / Jwh210
Eutylone crystal
Protonitazene (hydrochloride) CAS: 119276-01-6
Flubrotizolam CAS: 57801-95-3
Metonitazene CAS: 14680-51-4
Payment terms: Western Union,MoneyGram,Bitcoin or USDT.
Deliver Time: Usually 7-15days
Shipping method: FedEx, TNT, DHL,UPS etc.Our deliveries are 100% safe, fast, reliable and discreet.
Samples will be sent for your evaluation!If you are interested in, please contact me, let's talk details.
We specializes in exporting high quality Research chemical, medical intermediate, Pharmaceutical chemicals and so on. Products are exported to USA, Canada, France, Korea, Japan,Russia, Southeast Asia and other countries.
- Video recording of this lecture in English language: https://youtu.be/lK81BzxMqdo
- Video recording of this lecture in Arabic language: https://youtu.be/Ve4P0COk9OI
- Link to download the book free: https://nephrotube.blogspot.com/p/nephrotube-nephrology-books.html
- Link to NephroTube website: www.NephroTube.com
- Link to NephroTube social media accounts: https://nephrotube.blogspot.com/p/join-nephrotube-on-social-media.html
Pulmonary Thromboembolism - etilogy, types, medical- Surgical and nursing man...VarunMahajani
Disruption of blood supply to lung alveoli due to blockage of one or more pulmonary blood vessels is called as Pulmonary thromboembolism. In this presentation we will discuss its causes, types and its management in depth.
Factory Supply Best Quality Pmk Oil CAS 28578–16–7 PMK Powder in Stockrebeccabio
Factory Supply Best Quality Pmk Oil CAS 28578–16–7 PMK Powder in Stock
Telegram: bmksupplier
signal: +85264872720
threema: TUD4A6YC
You can contact me on Telegram or Threema
Communicate promptly and reply
Free of customs clearance, Double Clearance 100% pass delivery to USA, Canada, Spain, Germany, Netherland, Poland, Italy, Sweden, UK, Czech Republic, Australia, Mexico, Russia, Ukraine, Kazakhstan.Door to door service
Hot Selling Organic intermediates
Prix Galien International 2024 Forum ProgramLevi Shapiro
June 20, 2024, Prix Galien International and Jerusalem Ethics Forum in ROME. Detailed agenda including panels:
- ADVANCES IN CARDIOLOGY: A NEW PARADIGM IS COMING
- WOMEN’S HEALTH: FERTILITY PRESERVATION
- WHAT’S NEW IN THE TREATMENT OF INFECTIOUS,
ONCOLOGICAL AND INFLAMMATORY SKIN DISEASES?
- ARTIFICIAL INTELLIGENCE AND ETHICS
- GENE THERAPY
- BEYOND BORDERS: GLOBAL INITIATIVES FOR DEMOCRATIZING LIFE SCIENCE TECHNOLOGIES AND PROMOTING ACCESS TO HEALTHCARE
- ETHICAL CHALLENGES IN LIFE SCIENCES
- Prix Galien International Awards Ceremony
These simplified slides by Dr. Sidra Arshad present an overview of the non-respiratory functions of the respiratory tract.
Learning objectives:
1. Enlist the non-respiratory functions of the respiratory tract
2. Briefly explain how these functions are carried out
3. Discuss the significance of dead space
4. Differentiate between minute ventilation and alveolar ventilation
5. Describe the cough and sneeze reflexes
Study Resources:
1. Chapter 39, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 34, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 17, Human Physiology by Lauralee Sherwood, 9th edition
4. Non-respiratory functions of the lungs https://academic.oup.com/bjaed/article/13/3/98/278874
Explore natural remedies for syphilis treatment in Singapore. Discover alternative therapies, herbal remedies, and lifestyle changes that may complement conventional treatments. Learn about holistic approaches to managing syphilis symptoms and supporting overall health.
2. Genetic code
Salient features
Mutation
Types of mutation
Mutagens
Clinical correlations
3. Crick, Brenner et al. experiment - Demonstrate
that codons consist of three DNA bases
Marshall Nirenberg and Heinrich J. Matthaei in
1961 reported the first three letter code words for
each amino acid
H. Gobind Khorana- Genetic code dictionary and
previous results confirmed
4. Dictionary that identifies the correspondence
between a sequence of nucleotide bases and a
sequence of amino acids
Codon- triplet sequence of nucleotides on the
mRNA ( A G,C & U)
64 codon
19. AUG - codon for methionine.
In few proteins,
GUG
20. Change in nucleotide sequence of DNA
Out of every 106 cell divisions-1 mutation occurs
May occur in somatic cells ( aren’t passed
offspring)
May occur in gametes (eggs & sperm) and passed
to offspring
21.
22. Substitution of one base pair by another .
Transition :
purine to purine
Transversions :
purine to pyrimidine
25. Mutation Codon Change to DNA
sense strand
Change in
Amino Acid
S (sickle cell
anaemia)
6 GAG to GUG Glu to Val
C (cooley’s
syndrome)
6 GAG to AAG Glu to Lys
GSan Jose 7 GAG to GGG Glu to Gly
E 26 GAG to AAG Glu to Lys
MSaskatoon 63 CAT to TAT His to Tyr
MMilwauki 67 GTG to GAG Val to Glu
OArabia 121 GAA to GTA Glu to Val
26. One or more base pairs are inserted in or
deleted from the DNA .
27.
28. I . Single base additions ,
Normal gene
GGTCTCCTCACGCCA
↓
CCAGAGGAGUGCGGU
Codons
↓
Pro-Glu-Glu-Cys-Gly
Amino acids
Addition mutation
GGTGCTCCTCACGCCA
↓
CCACGAGGAGUGCGGU
↓
Pro-Arg-Gly-Val-Arg
29. II. Trinucleotide expansion
Huntingtons’s chorea
CAG repeated 30 to 300 times
III. Duplication.
Ex: Duchene Muscular Dystrophy
30. i) Large gene deletion
Ex: Alpha-thalassemia
i) Deletion of codon
Ex: Cystic fibrosis
i) Deletion of a single base
31. Consequences of point mutation
Normal gene
GGTCTCCTCACGCCA
↓
CCAGAGGAGUGCGGU
Codons
↓
Pro-Glu-Glu-Cys-Gly
Amino acids
Substitution mutation
GGTCTTCTCACGCCA
↓
CCAGAAGAGUGCGGU
↓
Pro-Glu-Glu-Cys-Gly
1. SILENT MUTATION
32. A. Acceptable
Eg: Normal Hemoglobin A molecule ,
67th amino acid in beta chain
GUU(Val)
GCU(Ala)
Hb sydney (functionally normal)
33. Eg: HbS or sickle cell Haemoglobin
beta chain - 6th position
GAG(glutamine)
GUG( Valine).
Hbs leads to sickle cell anemia.
34. Incompatible with normal life
Eg : HbM
Distal histidine of alpha chain.
35. leads to premature termination of the protein
Eg: Thalassemia
Codon 17 of the β-chain
41. Spontaneous tautomeric shifts in the bases
contribute to replication errors
Ex: Thymine (keto form) shifts to enol form ,
which pairs with guanine
42.
43. Double strand DNA breaks
It penetrates the whole body –
cause both somatic and Germ line mutations
44. Mutagenic component of sunlight
Can not penetrate beyond the outer layer of
the skin and - unable cause germ line
mutations.
only causes sunburn and skin cancer mainly
through the formation of pyrimidine dimers
45.
46. 1. Base analog
Bromouracil (structural analog of Thymine)
Enzyme of nucleotide synthesis and DNA synthesis
treat Bromouracil as thymine and incorporate it
into DNA , where it pairs with adenine
47.
48. Attach alkyl groups to nitrogen or oxygen atoms
in the bases.
Ex:
Methyl bromide ( used as grain fumigent)
Ethylene oxide (used for sterilization of surgical
instruments)
49.
50.
51. Planar fused ring structures –
Insert themselves between the stacked DNA
bases.
52. Salmonella Typhimurium (his-) are selected
Mutagenesis – indicated by his+ phenotype.
The compound to be tested is mixed with
bacteria and introduced into histidine deficient
medium.
Reverse mutation.
Number of colonies -proportional to quantity of
mutagen.
56. HbS
Sickle cell disease:
Due to missense
mutation.
Changes from A to U
GAA or GAG (Glu)
GUA or GUG (Val)
57.
58.
59. Hemoglobin C disease:
Due to missense
mutation.
Changes from G to A
GAA or GAG (Glu)
AAA or AAG (Lys)
60. In Hb Mckees Rocks
145 ( beta chain)
UAU or UAC (Tyrosine)
UAA or UAG(terminator codon )
Shortening of the beta chain from its normal 146
residue to 144 residues
cause overproduction of red blood cells
63. Encoding genes on chromosome 16 (short
arm)
Each cell has 4 copies of the alpha globin
gene
◦ Loss of ONE gene silent carrier
◦ Loss of TWO genes thalassemia minor (trait)
◦ Loss of THREE genes Hemoglobin H
◦ Loss of FOUR genes Hemoglobin Barts
64. Encoding genes on chromosome 11 (short
arm)
Each cell contains 2 copies of beta globin
gene
“Loss” of ONE gene thalassemia minor
(trait)
“Loss” of BOTH gene Thalassemia major
65. Hb α-codon
(142)
Amino acid
(142)
α-globin length
(residues)
A UAA 141
Contant spring CAA Glutamine 172
Icaria AAA Lysine 172
Seal Rock GAA Glutamate 172
Koya Dora UCA Serine 172
66. Deletion of phe residue at position 508 in
CFTR Gene (chromosome 7)
Causes improper folding of protein
Defective chloride transport ( pancreas,lung
testis & sweat glands)
67.
68.
69. Harper’s Review of Biochemistry
Lehniger’s principle of Biochemistry
Lippincott’s Illustrated Review of Biochemistry
Text Book of Biochemistry with clinical
correlations- Devlin TM
Text Book of Biochemistry by Vasudevan
Text book of biochemistry, satyanarayana
Principle of biochemistry, William H. simmons.
Addition and deletion – cause frameshift mutation by altering reading frame,
First two bases will be same only third base ll be deferent.
Reduces the effect of mutation.
, hence the genetic code is highly specific or unambiguous
the, the same for “elephant or E.coli”.
The genetic codon has been highly preserved during evolution.
The pairing of codon and anticodon can wobble at the third letter. The reduced stringency between the third base of the codon and the complementary nucleotide in the anticodon is called wobbling
Eg; Due to wobbling a single tRNA can recognize more than one codons for a single amino acid
GGU,GGC & GGA are the codon for glycine ; all three will pair with the anticodon CCI (I= Inosinic acid) of glycine-tRNA,
Eg glycine
Single tRNA can recognise more than one codon
31 tRNA for 61 amino acids
non-sense codons” or ‘punctuator codon or terminator codons,
They mark end of protein synthesis.
UGA is a stop codon, but in special circumstances, it stands for seleno-cysteine (21st amino acid).
Base substitutions in the coding sequence of genes are responsible for about 60% of disease causing mutation .
20-25% - due to insertion and deletion.
less than 1% of single gene disorders
Affect only one codon
Substitutions will only affect a single codon
Their effects may not be serious unless they affect an amino acid that is essential for the structure and function of the finished protein molecule (e.g. sickle cell anaemia)
First codon in sequence establishes the reading frame.
this leads to a polyglutamine repeat in the protein.
Change base may code for same amino acid
It is due to degeneracy.
Change base may code for different amino acid
( transversion).A to U
HbM results from histidine to tyrosine substitution { CAU to UAU} of the distal histidine residue of alpha chain .
There is methemoglobinemia
Change base become a termination codon.
Due to premature termination so functional activity may be destroyed . codon 17 of the β-chain is changed from UGG to UGA and results in the conversion of a codon tryptophan to a nonsense codon
One type of thalassemia
Production of shortened protein
Premature termination
Insertion or deletion of base in a gene results in an altered reading frame of the mRNA
{ hence the name frameshift} A ‘garbled’ [completely irrelevant] protein , with altered amino acid sequence is produced.
Deletion of one uracil changes , useless protein is produced . Frameshift mutation can also lead to thalassemia, premature chain termination and run on polypeptide
Agent which will increase DNA damage.
Induced mutation
Thymine normally present is present in the keto form and pairs with adenine , very rarely ,however it shifts spontaneously to the enol form , which pairs with guanine
If thymine in the template strand happens to be in the rare enol form at the moment of DNA replication, G instead of A is incorporated in the new strand.
It is mutagenic because the enol form is more stable in bromouracil than in thymine , causing mutations through sponatneous tautomeric shifts.
These agent turn the bases adenine ,guanine and cytosine into hypoxanthine , xanthine and uracil respectively,
These base make aberrant base pairing and lead to errors during DNA replication.
Cause error during replication
causing frameshift mutations during DNA replications.
Special strains of salmonella typhimurium ( bacteria causing typhoid are selected.
They have the mutated histidine gene.
They will grow only when histidine is provided in the culture medium.
They are sensitive to mutagens because they are defective in excision repair system for correcting DNA damage.
The compound to be tested is mixed with bacteria and introduced into histidine deficient medium. All bacteria will die,except those who have reverted back to wild type and acquire the capacity to synthesize histidine . This is called reverse mutation. The number of colonies will be proportional to quantity of mutagen.
1.Sponataneous mutation detection
2.Scan for point mutation
3. Detect mutation upto 500bp size pcr fragments
But other only 150-350b size
High sentivity(99.9%)
4. For coding region of gene for mutation that result in premature termination
5. Detect single nucleotide substitution
The UAU or UAC codon normally d
esignating tyrosine in position 145 of beta chain has mutated to the terminator codon UAA or UAG, resulting in thick blood subject to abnormal clotting and bleeding
Symptoms frameshift mutation
Thick mucus in the lungs and digestive track
Constant lung infections and impaired digestion
Defect in cftr protein
Cystic fibrosis transmemebrane conductance regulator-cftr
12-transmembrane helices
3 functionally significant domain
R domain for site for phosphorylation.-camp dependent protein kinase
Staph aureus& pseudomonas aeruginosa.
