Gene mutations can occur in several ways:
1) Substitutions exchange one DNA base for another and may alter the resulting protein. Sickle cell anemia is caused by a substitution.
2) Insertions add extra DNA bases. Huntington's disease results from repetitive CAG insertions.
3) Deletions remove sections of DNA. Cystic fibrosis stems from a deletion in the CFTR gene.
4) Frameshifts alter gene parsing and produce truncated proteins. Tay-Sachs disease arises from a frameshift mutation in the HEXA gene.
Chromosomes are thread-like structures located inside the nucleus of animal and plant cells. Each chromosome is made of protein and a single molecule of deoxyribonucleic acid (DNA). Passed from parents to offspring, DNA contains the specific instructions that make each type of living creature unique. The term chromosome comes from the Greek words for color (chroma) and body (soma). In the present slide, the structural chromosomal aberration is discussed. The diseases caused due to such aberrations are also explained. Hope you all enjoy. Feel free to comment if have any further clarifications.
Chromosomes are thread-like structures located inside the nucleus of animal and plant cells. Each chromosome is made of protein and a single molecule of deoxyribonucleic acid (DNA). Passed from parents to offspring, DNA contains the specific instructions that make each type of living creature unique. The term chromosome comes from the Greek words for color (chroma) and body (soma). In the present slide, the structural chromosomal aberration is discussed. The diseases caused due to such aberrations are also explained. Hope you all enjoy. Feel free to comment if have any further clarifications.
This is a brief overview of the Types of Mutation. I have compiled all the salient features of the Mutation and shared in this presentation, hope you guys like it.
Cell Biology and genetics paper - Mutation a basic touch to b.sc students with examples. DNA, genome, gene level mutation and chromosome level with examples. Touched some of the mutation types.
A chromosome abnormality, disorder, anomaly, aberration, or mutation is a missing, extra, or irregular portion of chromosomal DNA. It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes
This is a brief overview of the Types of Mutation. I have compiled all the salient features of the Mutation and shared in this presentation, hope you guys like it.
Cell Biology and genetics paper - Mutation a basic touch to b.sc students with examples. DNA, genome, gene level mutation and chromosome level with examples. Touched some of the mutation types.
A chromosome abnormality, disorder, anomaly, aberration, or mutation is a missing, extra, or irregular portion of chromosomal DNA. It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and
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This presentation explains the fundamentals of Genetic Code, Protein synthesis mechanism and Antibiotics that inhibits at various stages of Translation.
Personal notes:
- Section 1 : Cell
-- What is a Cell?
-- What is DNA?
-- What is mitochondrial DNA?
-- What is a gene?
-- What is a chromosome?
-- How many chromosomes do people have?
- Section 2 : Proteins
-- What are proteins and what do they do?
-- How do genes direct the production of proteins?
-- Can genes be turned on and off in cells?
-- What is epigenome?
-- How do cells divide?
-- How do genes control the growth and division of cells?
-- How do genetics indicate the location of a gene?
- Section 3: Genetic Mapping
-- What is genetic mapping?
-- How do researchers create a genetic map?
-- What are genetic markers?
Chapter 16 Genetics
What Is a Gene?
Chromosomes: Packages of Genetic Information
The Structure of DNA
DNA Replication
How Proteins Are Built
Genetic Mutations
How Radioactivity Causes Genetic Mutations
Meiosis and Genetic Diversity
Mendelian Genetics
More Wrinkles: Beyond Mendelian Genetics
The Human Genome
Cancer: Genes Gone Awry
Environmental Causes of Cancer
Transgenic Organisms and Cloning
DNA Technology—What Could Possibly Go Wrong?
History of Science: Discovery of the Double Helix
Technology: Gene Therapy
Science and Society: Genetic Counseling
Science and Society: DNA Forensics
Gene- basics (Gene, nature of Gene, regulatory elements of Gene, Non coding D...Dr. Naeem Ullah
In this ppt you will find what is Gene, nature of Gene, regulatory elements of Gene, Non coding DNA, Alleles, Molecular nature of alleles. #GENE #ALLELE #DNA
A chromosome is a long DNA molecule with part or all of the genetic material of an organism. Most eukaryotic chromosomes include packaging proteins called histones which, aided by chaperone proteins, bind to and condense the DNA molecule to maintain its integrity.
Molecular biology is a branch of science concerning biological activity at the molecular level.
The field of molecular biology overlaps with biology and chemistry and in particular, genetics and biochemistry.
A key area of molecular biology concerns understanding how various cellular systems interact in terms of the way DNA, RNA and protein synthesis function.
Molecular biology is the study of molecular underpinnings of the process of replication, transcription and translation of the genetic material.
The prostate is an exocrine gland of the male mammalian reproductive system
It is a walnut-sized gland that forms part of the male reproductive system and is located in front of the rectum and just below the urinary bladder
Function is to store and secrete a clear, slightly alkaline fluid that constitutes 10-30% of the volume of the seminal fluid that along with the spermatozoa, constitutes semen
A healthy human prostate measures (4cm-vertical, by 3cm-horizontal, 2cm ant-post ).
It surrounds the urethra just below the urinary bladder. It has anterior, median, posterior and two lateral lobes
It’s work is regulated by androgens which are responsible for male sex characteristics
Generalised disease of the prostate due to hormonal derangement which leads to non malignant enlargement of the gland (increase in the number of epithelial cells and stromal tissue)to cause compression of the urethra leading to symptoms (LUTS
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.
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.
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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
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Ve...kevinkariuki227
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
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
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.
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.
Report Back from SGO 2024: What’s the Latest in Cervical Cancer?bkling
Are you curious about what’s new in cervical cancer research or unsure what the findings mean? Join Dr. Emily Ko, a gynecologic oncologist at Penn Medicine, to learn about the latest updates from the Society of Gynecologic Oncology (SGO) 2024 Annual Meeting on Women’s Cancer. Dr. Ko will discuss what the research presented at the conference means for you and answer your questions about the new developments.
Flu Vaccine Alert in Bangalore Karnatakaaddon Scans
As flu season approaches, health officials in Bangalore, Karnataka, are urging residents to get their flu vaccinations. The seasonal flu, while common, can lead to severe health complications, particularly for vulnerable populations such as young children, the elderly, and those with underlying health conditions.
Dr. Vidisha Kumari, a leading epidemiologist in Bangalore, emphasizes the importance of getting vaccinated. "The flu vaccine is our best defense against the influenza virus. It not only protects individuals but also helps prevent the spread of the virus in our communities," he says.
This year, the flu season is expected to coincide with a potential increase in other respiratory illnesses. The Karnataka Health Department has launched an awareness campaign highlighting the significance of flu vaccinations. They have set up multiple vaccination centers across Bangalore, making it convenient for residents to receive their shots.
To encourage widespread vaccination, the government is also collaborating with local schools, workplaces, and community centers to facilitate vaccination drives. Special attention is being given to ensuring that the vaccine is accessible to all, including marginalized communities who may have limited access to healthcare.
Residents are reminded that the flu vaccine is safe and effective. Common side effects are mild and may include soreness at the injection site, mild fever, or muscle aches. These side effects are generally short-lived and far less severe than the flu itself.
Healthcare providers are also stressing the importance of continuing COVID-19 precautions. Wearing masks, practicing good hand hygiene, and maintaining social distancing are still crucial, especially in crowded places.
Protect yourself and your loved ones by getting vaccinated. Together, we can help keep Bangalore healthy and safe this flu season. For more information on vaccination centers and schedules, residents can visit the Karnataka Health Department’s official website or follow their social media pages.
Stay informed, stay safe, and get your flu shot today!
2. What is gene
• A gene is the basic physical and functional unit of
heredity.
• Genes, which are made up of DNA, act as instructions
to make molecules called proteins.
• In humans, genes vary in size from a few hundred DNA
bases to more than 2 million bases.
• The Human Genome Project has estimated that
humans have between 20000 and 25000 genes.
3. • Every person has two copies of each gene, one inherited
from each parent.
• Most genes are the same in all people, but a small number
of genes (less than 1 percent of the total) are slightly
different between people.
• Alleles are forms of the same gene with small differences
in their sequence of DNA bases.
• These small differences contribute to each person’s unique
physical features.
4. • Mendel while explaining the results of his
monohybrid and dihybrid crosses, first of all
conceived of the genes as particulate units and
referred them by various names such as hereditary
factors or hereditary elements.
5. The Discovery of DNA
• DNA was first identified in 1869 by Friedrich
Miescher, a Swiss biologist, removed the nuclei of
pus cells and found that they contained a chemical
material , he called nuclein, which , he separated the
substance into a basic part (which we now know is
DNA) and an acidic part (a class of acidic proteins
that bind to basic DNA).
• Later the scientists realized that there are two types
of nucleic acids : DNA (deoxyribonucleic acid ) and
RNA (ribonucleic acid )
6. Nucleic Acids
• Deoxyribonucleic Acid (DNA) is the genetic
material found in the cells of all living organisms.
• Nearly every cell (with a nucleus) in a person's
body has the same DNA.
• Most DNA is located in the cell nucleus (where it
is called nuclear DNA),
• but DNA can also be found in the mitochondria
(where it is called mitochondrial DNA or mtDNA).
7. • DNA and its close relative RNA are perhaps the most
important molecules in biology.
• They contains the instructions that make every single
living organism on the planet, and yet it is only in the
past 50 years that we have begun to understand them.
• and they are called nucleic acids because they are
weak acids, first found in the nuclei of cells.
• They are polymers, composed of monomers called
nucleotides.
8. Nucleotide parts
• Nucleotides have three parts to
them:
1-a phosphate group:
which is negatively charged, and
gives nucleic acids their acidic
properties.
2-a pentose sugar, which has 5
carbon atoms in it.
- the carbon atoms are numbered as
shown to distinguish them from the
carbon atoms in the base.
9. Nucleotide parts
• If carbon 2 has a hydroxyl group attached then the sugar is
ribose, found in RNA.
• If the carbon 2 just has a hydrogen atom attached instead,
then the sugar is deoxyribose, found in DNA.
10. 3-a nitrogenous base.
• There are five different bases, but they all contain
the elements carbon, hydrogen, oxygen and
nitrogen.
• The base thymine is found in DNA only and the base
uracil is found in RNA only, so there are only four
different bases present at a time in one nucleic acid
molecule.
12. Nucleotide Polymerisation
• Nucleotides polymerise by forming bonds between
carbon 3 of the sugar and an oxygen atom of the
phosphate.
• The bases do not take part in the polymerisation, so
there is a sugar-phosphate backbone with the bases
extending off it.
• This means that the nucleotides can join together in
any order along the chain.
13.
14. Structure of DNA
• The three-dimensional structure of DNA was
discovered in the 1950's by Watson and Crick.
• The main features of the structure are:
• DNA is double-stranded, so there are two
polynucleotide stands alongside each other.
15. • The strands are antiparallel,
i.e. they run in opposite
directions.
• The two strands are wound
round each other to form a
double helix.
•The two strands are joined
together by hydrogen bonds
between the bases.
• The bases therefore form
base pairs, which are like
rungs of a ladder.
16. • The base pairs are specific.
• A only binds to T (and T with A)
• and C only binds to G (and G
• with C).
• These are called complementary
base pairs.
• This means that whatever the
• sequence of bases along one
• strand, the sequence of bases
• on the other strand must be
• complementary to it.
17. Function of DNA
DNA is the genetic material, and genes are made
of DNA. Therefore DNA has two essential
functions:
replication and expression.
18. • Replication means that the
DNA, with all its
genes,must be copied
every time a cell divides.
• Expression means that the
genes on DNA must control
characteristics.
19. • A gene was traditionally defined as a factor
that controls a particular characteristic (such
as flower color).
• but a much more precise definition is that a
gene is a section of DNA that codes for a
particular protein. Characteristics are
controlled by genes through the proteins they
code for.
20. Expression can be split into two parts:
• transcription (making RNA) and translation (making proteins).
• These two functions are summarized in this diagram
(called the central dogma of genetics).
21. RNA
RNA is a nucleic acid like DNA, but
with 4 differences:
1-RNA has the sugar ribose
instead of deoxyribose
2-RNA has the base uracil instead
of thymine
3-RNA is usually single stranded
4-RNA is usually shorter than DNA
22.
23. The Genetic Code
• The sequence of bases on DNA codes for the
sequence of amino acids in proteins.
• But there are 20 different amino acids and only 4
different bases, so the bases are read in groups of 3.
• This gives 43 or 64 combinations, more than enough
to code for 20 amino acids.
24. • A group of three bases coding for an amino acid is called a
codon, and the meaning of each of the 64 codons is called the
genetic code.
• The genetic code can be expressed as either RNA codons or
DNA codons.
25.
26.
27. Mutation
• Mutation is the alteration of DNA sequence.
• whether it be in a small way by the alteration of a single base
pair, or whether it be a gross event such as the gain or loss of
an entire chromosome.
How common are mutations?
• Mutations occurs at a frequency of about 1 in every 1 billion
base pairs
• Everybody has about 6 mutations in each cell in their body!
28. If we have that many mutations, why don’t
we look weird?
• Mutations are not always seen. The affected
gene may still function.
• Mutations may be harmful.
• Mutations may be beneficial.
• Mutations may have no effect on the
organism.
29. How do mutations affect a population
• One consequence may be genetic disease.
• However, although in the short term mutation may
seem to be a BAD THING, in the long term it is
essential to our existence.
• Without mutation there could be no change and
without change life cannot evolve. Some variations
may help population to survive better
30. Somatic or germinal?
• The first point to consider is where is the mutation
occurring?
• Most of our cells are somatic cells and consequently most
mutations are happening in somatic cells.
• Only mutations in gametes (egg & sperm) are passed onto
offspring.
• That is not to say that somatic mutation is unimportant,
cancer occurs as a direct consequence of somatic mutation.
31. Types of mutations
1. Substitution
A substitution is a mutation that exchanges one
base for another (i.e., a change in a single "chemical
letter" such as switching an A to a G). Such a
substitution could change a codon to one that
encodes a different amino acid and cause a small
change in the protein produced.
32. For example, sickle cell anemia is caused by a
substitution in the beta-hemoglobin gene, which
alters a single amino acid in the protein produced.
34. Example :Huntington's Disease (HD) is a brain disorder that
affects a person's ability to think, talk, and move.
-Normally, the coding region of this gene contains the DNA
sequence "CAG" repeated again and again. The number of
times this triplet is repeated varies from person to person,
ranging from 10 to 26 times
36. Example :Cystic fibrosis is a genetic disorder that affects the
respiratory and digestive systems.
-People with cystic fibrosis inherit a defective gene on
chromosome 7 called CFTR (cystic fibrosis transmembrane
conductance regulator)
37. 4. Frame-shift
insertions and deletions can alter a gene so that its message is
no longer correctly parsed. This usually generates truncated
proteins that are as useless These changes are called
frameshifts.
38. Example :
• Tay–Sachs disease(or hexosaminidase A deficiency)
is a rare autosomal recessive genetic disorder. causes a
progressive deterioration of nerve cells and of mental and
physical abilities that begins around 7 months of age and
usually results in death by the age of four.
• -caused by a genetic mutation in the HEXA gene on
(human) chromosome 15.