This PPT consists of 15 slides only explaining Pleiotropy. This is a phenomenon when one gene controls more than one trait , the traits may be related .Generally one gene's product acts for many reactions and so can affect more than one trait. Examples can be seen in pea Coloured flower and pigmentation in leaf axil, frizzle trait in chicken, fur colour and deafness in cats,Human pleiotropic traits are PKU,Sickle cell Anaemia. HOsyndrome , p53 gene etc
A complementation test (sometimes called a "cis-trans" test) can be used to test whether the mutations in two strains are in different genes. By taking an example of Benzer's work, complementation has been explained.
This PPT consists of 15 slides only explaining Pleiotropy. This is a phenomenon when one gene controls more than one trait , the traits may be related .Generally one gene's product acts for many reactions and so can affect more than one trait. Examples can be seen in pea Coloured flower and pigmentation in leaf axil, frizzle trait in chicken, fur colour and deafness in cats,Human pleiotropic traits are PKU,Sickle cell Anaemia. HOsyndrome , p53 gene etc
A complementation test (sometimes called a "cis-trans" test) can be used to test whether the mutations in two strains are in different genes. By taking an example of Benzer's work, complementation has been explained.
It is the fundamental law of population genetics and provides the basis for studying Mendelian populations ( Mendelian population: A group of sexually inbreeding organisms living within a circumscribed area). It describes populations that are not evolving.
Epistasis is a Greek word that means standing over .Bateson used it to describe the masking effect in 1909.
An interaction between a pair of loci in which the phenotype effect of one locus depends on the genotype at the second locus.
Genes whose phenotypes are ;
Expressed,epistatic.
Altered or suppressed hypostatic.
According to Hardy (England,1908) and Weinberg (Germany,1909), gene and genotype frequency of a Mendelian population remain constant generation after generation unless there is selection,mutation,migration or random drift.
Basics of Undergraduate/university fellows
In supplementary gene action, the dominant allele of one gene is essential for the
development of the concerned phenotype, while the other gene modifies the expression of the first gene.
Basics of Undergraduate/university fellows
Epistasis is a Greek word that means standing over.
BATESON used term epistasis to describe the masking effect in 1909
The term epistasis describes a certain relationship between genes, where an allele of
one gene hides or masks the visible output or phenotype of another gene.
When two different genes which are not alleles, both affect the same character in such
a way that the expression of one masks (inhibits or suppresses) the expression of the
other gene, the phenomenon is said to be epistasis.
The gene that suppresses other gene expression is known as Epistatic gene.
The gene that is suppressed or remain obscure is called Hypostatic gene
The classical phenotypic ratio of 9:3:3:1 F2 ratio becomes modified by epistasis.
It is the fundamental law of population genetics and provides the basis for studying Mendelian populations ( Mendelian population: A group of sexually inbreeding organisms living within a circumscribed area). It describes populations that are not evolving.
Epistasis is a Greek word that means standing over .Bateson used it to describe the masking effect in 1909.
An interaction between a pair of loci in which the phenotype effect of one locus depends on the genotype at the second locus.
Genes whose phenotypes are ;
Expressed,epistatic.
Altered or suppressed hypostatic.
According to Hardy (England,1908) and Weinberg (Germany,1909), gene and genotype frequency of a Mendelian population remain constant generation after generation unless there is selection,mutation,migration or random drift.
Basics of Undergraduate/university fellows
In supplementary gene action, the dominant allele of one gene is essential for the
development of the concerned phenotype, while the other gene modifies the expression of the first gene.
Basics of Undergraduate/university fellows
Epistasis is a Greek word that means standing over.
BATESON used term epistasis to describe the masking effect in 1909
The term epistasis describes a certain relationship between genes, where an allele of
one gene hides or masks the visible output or phenotype of another gene.
When two different genes which are not alleles, both affect the same character in such
a way that the expression of one masks (inhibits or suppresses) the expression of the
other gene, the phenomenon is said to be epistasis.
The gene that suppresses other gene expression is known as Epistatic gene.
The gene that is suppressed or remain obscure is called Hypostatic gene
The classical phenotypic ratio of 9:3:3:1 F2 ratio becomes modified by epistasis.
This is PPT on Evolution. This is just and introductory PPT. Soon There will be a PPT with much more on Evolution. Hope That you all like it. please like and share. each like Counts.
This is PPT on Evolution. This is just and introductory PPT. Soon There will be a PPT with much more on Evolution. Hope That you all like it. please like and share. each like Counts.
Role of genetics in periodontal diseasesAnushri Gupta
Terminologies in Genetics
Genetic study design
genetic syndrome and disease associated with periodontal diseases, heretibility of periodontal disease, gene library, gene therapy
- 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
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- Link to NephroTube social media accounts: https://nephrotube.blogspot.com/p/join-nephrotube-on-social-media.html
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
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
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.
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.
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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.
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.
3. Outline
• Definition
• Penetrance vs. Expressivity
• Example
• Quantified Example
• Qualitative Example
• Types
• Uniform Expressivity
• Variable Expressivity
• Waardenburg Syndrome
4. Definition
“The degree to which trait expression differs among individuals”
OR
‘’Expressivity quantifies variation in a non-binary phenotype across
individuals carrying a particular genotype”
OR
“The relative capacity of a gene to affect the phenotype of an organism
of which it is a part”
It is equal to the proportion of individual carriers of a genotype for a
trait who show the trait to a specifiable extent.
5. Penetrance vs expressivity
Penetrance measures how often a gene generates its associated
phenotype to any extent that makes an individual carrier different from
the wild type.
Expressivity characterizes non-binary qualitatively or quantitatively the
extent of phenotypic variation within a particular genotype.
‘’With binary phenotypes expressivity and penetrance are the same.’’
6.
7.
8. Quantified Example
• volume of blood ejected from the pumping heart
• with each contraction
• relative to the total amount of blood contained in the heart's
chamber
• can be quantified by echocardiography
• called the ejection fraction
9. Qualitative Example
• in the hypothetical example of a "blue" gene
• the gene might have an expressivity of 25% for individuals
• that express the "blue" gene & appear light blue
• while individuals who express the "blue" gene & appear dark blue
• the expressivity might be 75%.
11. Uniform Expressivity
“ When a phenotypic expression of a gene is identical or similar in all
the individuals which carry such genes.”
Most of the qualitative characters exhibit it.
12. Variable expressivity
“it occurs when a phenotype is expressed to a different degree among
individuals with the same genotype..”.”
Example:-
• 2 extra digits vs 3 in polydactyly
• The digit can be full size or just a stub
18. Example
• Individuals with the same allele for a gene involved in a quantitative
trait like body height might have large variance (some are taller than
others), making prediction of the phenotype from a particular
genotype alone difficult. The expression of a phenotype may be
modified by the effects of aging, other genetic loci, or environmental
factors
• Neurofibromatosis, where patients with the same genetic mutation
show different signs and symptoms of the disease.
19.
20. Reasons
Variable expressivity may be due to the following reasons.
• 1) Modifying effect of the genetic background or modifying genes.
• 2) The effect of various environmental factors on the gene expression.
