Genetics is a branch of biology concerned with the study of genes, genetic variation, and heredity in organisms. Though heredity had been observed for millennia, Gregor Mendel, Moravian scientist and Augustinian friar working in the 19th century in Brno, was the first to study genetics scientifically. Mendel studied "trait inheritance", patterns in the way traits are handed down from parents to offspring over time. He observed that organisms (pea plants) inherit traits by way of discrete "units of inheritance". This term, still used today, is a somewhat ambiguous definition of what is referred to as a gene.
Trait inheritance and molecular inheritance mechanisms of genes are still primary principles of genetics in the 21st century, but modern genetics has expanded beyond inheritance to studying the function and behavior of genes. Gene structure and function, variation, and distribution are studied within the context of the cell, the organism (e.g. dominance), and within the context of a population. In science and especially in mathematical studies, a variational principle is one that enables a problem to be solved using calculus of variations, which concerns finding functions that optimize the values of quantities that depend on those functions.
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Genetic
Mendle’s law
Patterns of Inheritance
• Mendel’s Laws
• Variations on Mendel’s Laws
• The Chromosomal Basis of Inheritance
• Sex Chromosomes and Sex-linked Genes
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The Field of Genetics has Ancient Roots
• Hippocrates (father of medicine): particles from every part of the body travel to eggs
and sperm to be passed on
• Aristotle (philosopher): ‘potential’ rather than particles to produce body features
• 19th century biologists: blending- mom and dad’s traits blend like blue and yellow paint
Hippocrates Aristotle
Experimental Genetics Began in an Abbey Garden
• Modern genetics began in 1860s
• Gregor Mendel (monk in what was then Austria- now Czech Republic)
• Parents pass on discrete, heritable factors (1866)
• Heritable factors retain their individuality for generations (no blending)
• Studied garden peas
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• In a typical breeding experiment
– Mendel mated two different, true-breeding varieties, a process called hybridization
• The true-breeding parents
– Are called the P generation
• The hybrid offspring of the P generation
– Are called the F1 generation
– F2 generation comes next
Experimental Genetics Began in an Abbey Garden
• Cross: pollinating a flower of one variety with the pollen of another variety
Mendel chose to work with peas:
– Because they are available in many varieties
– Because he could strictly control which plants mated with which
– Because he could easily start his experiments with varieties that were “true-breeding”
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Some genetic vocabulary
Character: a heritable feature, such as flower color
Trait: a variant of a character, such as purple or white flowers
Gene: a discrete unit of hereditary information consisting of a specific
DNA (nucleotide) sequence on a chromosome
Allele: alternative version of a gene
Mendel’s Law of Segregation Describes the Inheritance of a Single Characteristic
Performed monohybrid crosses (only 1 trait differs between the varieties)
• When Mendel crossed contrasting, true-breeding white and purple
flowered pea plants
» All of the offspring were purple!!!
Mendel discovered:
A ratio of about three to one (3:1)
purple to white flowers,
in the F2 generation
When Mendel crossed the F1 plants –
Many of the plants had
purple flowers, but some
had white flowers
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Mendel’s Law of Segregation Describes the Inheritance of a Single Characteristic
Mendel developed a hypothesis to explain the 3:1 inheritance pattern that he observed
among the F2 offspring
Four Parts:
1. First, alternative versions of genes account for variations in inherited characters
which are now called alleles
Allele for purple flowers
Locus for flower-color gene
Homologous
pair of
chromosomes
Allele for white flowers
Mendel’s Model for Inheritance
Four Parts:
1. First, .
Mendelian Inheritance and Post-Mendelian Developments.pptxBhanu Yadav
This Project Aims at discussing Mendel's Laws of Inheritance with a brief introduction to his work, followed up by the developments that occured post mendelism
Ethanol (CH3CH2OH), or beverage alcohol, is a two-carbon alcohol
that is rapidly distributed in the body and brain. Ethanol alters many
neurochemical systems and has rewarding and addictive properties. It
is the oldest recreational drug and likely contributes to more morbidity,
mortality, and public health costs than all illicit drugs combined. The
5th edition of the Diagnostic and Statistical Manual of Mental Disorders
(DSM-5) integrates alcohol abuse and alcohol dependence into a single
disorder called alcohol use disorder (AUD), with mild, moderate,
and severe subclassifications (American Psychiatric Association, 2013).
In the DSM-5, all types of substance abuse and dependence have been
combined into a single substance use disorder (SUD) on a continuum
from mild to severe. A diagnosis of AUD requires that at least two of
the 11 DSM-5 behaviors be present within a 12-month period (mild
AUD: 2–3 criteria; moderate AUD: 4–5 criteria; severe AUD: 6–11 criteria).
The four main behavioral effects of AUD are impaired control over
drinking, negative social consequences, risky use, and altered physiological
effects (tolerance, withdrawal). This chapter presents an overview
of the prevalence and harmful consequences of AUD in the U.S.,
the systemic nature of the disease, neurocircuitry and stages of AUD,
comorbidities, fetal alcohol spectrum disorders, genetic risk factors, and
pharmacotherapies for AUD.
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
New Directions in Targeted Therapeutic Approaches for Older Adults With Mantl...i3 Health
i3 Health is pleased to make the speaker slides from this activity available for use as a non-accredited self-study or teaching resource.
This slide deck presented by Dr. Kami Maddocks, Professor-Clinical in the Division of Hematology and
Associate Division Director for Ambulatory Operations
The Ohio State University Comprehensive Cancer Center, will provide insight into new directions in targeted therapeutic approaches for older adults with mantle cell lymphoma.
STATEMENT OF NEED
Mantle cell lymphoma (MCL) is a rare, aggressive B-cell non-Hodgkin lymphoma (NHL) accounting for 5% to 7% of all lymphomas. Its prognosis ranges from indolent disease that does not require treatment for years to very aggressive disease, which is associated with poor survival (Silkenstedt et al, 2021). Typically, MCL is diagnosed at advanced stage and in older patients who cannot tolerate intensive therapy (NCCN, 2022). Although recent advances have slightly increased remission rates, recurrence and relapse remain very common, leading to a median overall survival between 3 and 6 years (LLS, 2021). Though there are several effective options, progress is still needed towards establishing an accepted frontline approach for MCL (Castellino et al, 2022). Treatment selection and management of MCL are complicated by the heterogeneity of prognosis, advanced age and comorbidities of patients, and lack of an established standard approach for treatment, making it vital that clinicians be familiar with the latest research and advances in this area. In this activity chaired by Michael Wang, MD, Professor in the Department of Lymphoma & Myeloma at MD Anderson Cancer Center, expert faculty will discuss prognostic factors informing treatment, the promising results of recent trials in new therapeutic approaches, and the implications of treatment resistance in therapeutic selection for MCL.
Target Audience
Hematology/oncology fellows, attending faculty, and other health care professionals involved in the treatment of patients with mantle cell lymphoma (MCL).
Learning Objectives
1.) Identify clinical and biological prognostic factors that can guide treatment decision making for older adults with MCL
2.) Evaluate emerging data on targeted therapeutic approaches for treatment-naive and relapsed/refractory MCL and their applicability to older adults
3.) Assess mechanisms of resistance to targeted therapies for MCL and their implications for treatment selection
NVBDCP.pptx Nation vector borne disease control programSapna Thakur
NVBDCP was launched in 2003-2004 . Vector-Borne Disease: Disease that results from an infection transmitted to humans and other animals by blood-feeding arthropods, such as mosquitoes, ticks, and fleas. Examples of vector-borne diseases include Dengue fever, West Nile Virus, Lyme disease, and malaria.
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!
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
These lecture slides, by Dr Sidra Arshad, offer a quick overview of physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar leads (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists Saeid Safari
Preoperative Management of Patients on GLP-1 Receptor Agonists like Ozempic and Semiglutide
ASA GUIDELINE
NYSORA Guideline
2 Case Reports of Gastric Ultrasound
Knee anatomy and clinical tests 2024.pdfvimalpl1234
This includes all relevant anatomy and clinical tests compiled from standard textbooks, Campbell,netter etc..It is comprehensive and best suited for orthopaedicians and orthopaedic residents.
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.
Lung Cancer: Artificial Intelligence, Synergetics, Complex System Analysis, S...Oleg Kshivets
RESULTS: Overall life span (LS) was 2252.1±1742.5 days and cumulative 5-year survival (5YS) reached 73.2%, 10 years – 64.8%, 20 years – 42.5%. 513 LCP lived more than 5 years (LS=3124.6±1525.6 days), 148 LCP – more than 10 years (LS=5054.4±1504.1 days).199 LCP died because of LC (LS=562.7±374.5 days). 5YS of LCP after bi/lobectomies was significantly superior in comparison with LCP after pneumonectomies (78.1% vs.63.7%, P=0.00001 by log-rank test). AT significantly improved 5YS (66.3% vs. 34.8%) (P=0.00000 by log-rank test) only for LCP with N1-2. Cox modeling displayed that 5YS of LCP significantly depended on: phase transition (PT) early-invasive LC in terms of synergetics, PT N0—N12, cell ratio factors (ratio between cancer cells- CC and blood cells subpopulations), G1-3, histology, glucose, AT, blood cell circuit, prothrombin index, heparin tolerance, recalcification time (P=0.000-0.038). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and PT early-invasive LC (rank=1), PT N0—N12 (rank=2), thrombocytes/CC (3), erythrocytes/CC (4), eosinophils/CC (5), healthy cells/CC (6), lymphocytes/CC (7), segmented neutrophils/CC (8), stick neutrophils/CC (9), monocytes/CC (10); leucocytes/CC (11). Correct prediction of 5YS was 100% by neural networks computing (area under ROC curve=1.0; error=0.0).
CONCLUSIONS: 5YS of LCP after radical procedures significantly depended on: 1) PT early-invasive cancer; 2) PT N0--N12; 3) cell ratio factors; 4) blood cell circuit; 5) biochemical factors; 6) hemostasis system; 7) AT; 8) LC characteristics; 9) LC cell dynamics; 10) surgery type: lobectomy/pneumonectomy; 11) anthropometric data. Optimal diagnosis and treatment strategies for LC are: 1) screening and early detection of LC; 2) availability of experienced thoracic surgeons because of complexity of radical procedures; 3) aggressive en block surgery and adequate lymph node dissection for completeness; 4) precise prediction; 5) adjuvant chemoimmunoradiotherapy for LCP with unfavorable prognosis.
micro teaching on communication m.sc nursing.pdfAnurag Sharma
Microteaching is a unique model of practice teaching. It is a viable instrument for the. desired change in the teaching behavior or the behavior potential which, in specified types of real. classroom situations, tends to facilitate the achievement of specified types of objectives.
2. What was the prevalent believe about
inheritance before Mendel?
• People believed in “spontaneous generation” and
in the “blending of characters”
– Problem:
• Would expect variation to disappear
• Variation in traits persists
3. Experimental genetics began in an abbey
garden
– Modern genetics
• Began with Gregor Mendel’s experiments with pea
plants.
Petal
Carpel
Stamen
4. Why breed peas?
-Used pea plants because:
•They were available
•They reproduced quickly
•They showed obvious differences in the traits
5. Mendel's Plant Breeding
Experiments
For seven years, Mendel bred pea plants and recorded
inheritance patterns in the offspring.
Particulate Hypothesis of Inheritance
Parents pass on to their offspring separate and distinct
factors (today called genes) that are responsible for
inherited traits.
Understood that there was something that carried
traits from one generation to the next- “FACTOR”.
6. To test the particulate hypothesis, Mendel crossed true-breeding
plants that had two distinct and contrasting traits—for example,
purple or white flowers.
What is meant by “true breeding?”
7. Typical breeding experiment
P generation (parental
generation)
F1 generation (first filial
generation, the word filial
from the Latin word for
"son") are the hybrid
offspring.
Allowing these F1 hybrids
to self-pollinate produces:
F2 generation (second filial
generation).
It is the analysis of this that
lead to an understanding of
genetic crosses.
9. Mendel's Laws of Inheritance
Mendel postulated three laws, which
are now called after his name as
Mendel’s laws of heredity.
These are:
1. Law of dominance and recessive
2. Law of segregation
3.Law of independent assortment
10. -One allele masked another.
one allele was dominant over the other in the F1
generation.
- Offspring that are hybrid for a trait will
have only the dominant trait in the phenotype.
1. Law of Dominance
11. When two homozygous
individuals with one or more
sets of contrasting characters
are crossed, the characters that
appear in the F1 hybrids are
dominant characters and those
do not appear in F1 are
recessive characters.
12. Importance of law of dominance
The phenomenon of dominance is of practical importance as
the harmful recessive characters are masked by the normal
dominant characters in the hybrids.
In Human beings a form of idiocy, diabetes, haemophilia etc.
are recessive characters. A person hybrid for all these
characteristics appears perfectly normal. Thus harmful
recessive genes can exist for several generations without
expressing themselves.
13. - When gametes are formed, the pairs of hereditary
factors (genes) become separated, so that each sex
cell (egg/sperm) receives only one kind of gene.
- Alleles for a trait are then "recombined" at
fertilization, producing the genotype for the traits of
the offspring.
2. Law of Segregations:
14. Example
• Pure tall plants are homozygous and, therefore possess
genes (factors) TT; similarly dwarf possess genes tt.
• The tallness and dwarfness are two independent but
contrasting factors or determiners.
• Pure tall plants produce gametes all of which possess gene T
and dwarf plants t type of gametes.
• During cross fertilization gametes with T and t unite to
produce hybrids of F1 generation.
15. • These hybrids possess genotype Tt. It means F1 plants, though tall
phenotypically, possess one gene for tallness and one gene for
dwarfness.
• Apparently, the tall and dwarf characters appear to have become
contaminated developing only tall character.
• But at the time of gamete formation, the genes T (for tallness) and t
(for dwarfness) separate and are passed on to separate gametes.
• As a result, two types of gametes are produced from the
heterozygote in equal numerosity. 50% of the gametes possess
gene T and other 50% possess gene t.
• Therefore, these gametes are either pure for tallness or for
dwarfness. (This is why the law of segregation is also described as
Law of purity of gametes).
16.
17. 3. Law of Independent Assortment:
- Members of one gene pair segregate independently from
other gene pairs during gamete formation
• The inheritance of more than one pair of characters (two pairs
or more) is studied simultaneously, the factors or genes for
each pair of characters assort out independently of the other
pairs. Mendel formulated this law from the results of a
dihybrid cross.
18. • Monohybrid cross: a genetic cross involving a
single pair of genes (one trait); parents differ by a
single trait.
• Dihybrid cross: Matings that involve parents that
differ in two genes (two independent traits)
19. • The cross was made between plants having yellow and round
cotyledons and plants having green and wrinkled cotyledons.
• The F1 hybrids all had yellow and round seeds. When these F1
plants were self fertilized they produced four types of plants
in the following proportion:
(i) Yellow and round 9
(ii) Yellow and wrinkled 3
(iii) Green and round 3
(iv) Green and wrinkled 1
20. • These results indicate that yellow and green seeds appear
in the ratio of 9 + 3 : 3 + 1 = 3 : 1.
• Similarly, the round and wrinkled seeds appear in the ratio
of 9 + 3 : 3 +1 = 12:4 or 3 :1.
• This indicates that each of the two pairs of alternative
characters yellow-green cotyledon colour is inherited
independent of the round-wrinkled character of the
cotyledons.
• It means at the time of gamete formation the factor for
yellow colour enters the gametes independent of R or r.
23. Many human disorders follow Mendelian
patterns of inheritance
• Cystic fibrosis
• Tay-Sachs disease
• Sickle-cell disease
24. Inheritance pattern of CF
• Cystic Fibrosis: a lethal genetic disease affecting Caucasians.
• Caused by mutant recessive gene
• One in 400 Caucasian couples will be both carriers of CF – 1 in 4
children will have it.
• CF disease affects transport
in tissues – mucus is accumulated
in lungs, causing infections.
25. Inheritance pattern of CF
IF two parents carry the recessive gene of
Cystic Fibrosis (c), that is, they are
heterozygous (C c), one in four of their
children is expected to be homozygous for
CF and have the disease:
C C C c
C c c c
C c
C
c
C C = normal
C c = carrier, no symptoms
c c = has cystic fibrosis