This document discusses blood group types and the scope of genetics. It describes the four main blood groups (A, B, AB, and O) which are determined by the presence or absence of antigens on red blood cells. The ABO blood group system and Rh blood group system are the two most important classification systems. Genetics has many important applications including understanding inheritance, disease risk, identity testing, treating diseases, understanding human origins, agriculture, ancient history, blood transfusions, prenatal testing, drug sensitivity, and pharmaceutical development.
This pdf comprises of Basic of Genetics: Purpose: To convey that “Genetics is to biology what Newton’s
laws are to Physical Sciences”. Mendel’s laws, Concept of segregation and
independent assortment. Concept of allele. Gene mapping, Gene
interaction, Epistasis. Meiosis and Mitosis be taught as a part of
genetics. Emphasis to be give not to the mechanics of cell division nor the
phases but how genetic material passes from parent to offspring. Concepts
of recessiveness and dominance. Concept of mapping of phenotype to
genes. Discuss about the single gene disorders in humans. Discuss the
concept of complementation using human genetics.
This pdf comprises of Basic of Genetics: Purpose: To convey that “Genetics is to biology what Newton’s
laws are to Physical Sciences”. Mendel’s laws, Concept of segregation and
independent assortment. Concept of allele. Gene mapping, Gene
interaction, Epistasis. Meiosis and Mitosis be taught as a part of
genetics. Emphasis to be give not to the mechanics of cell division nor the
phases but how genetic material passes from parent to offspring. Concepts
of recessiveness and dominance. Concept of mapping of phenotype to
genes. Discuss about the single gene disorders in humans. Discuss the
concept of complementation using human genetics.
Blood is a bodily fluid in animals that distributes obligatory substances such as nutrients and oxygen to the cells and conveys metabolic waste products away from those same cells.When it reaches the lungs, gas exchange occurs when carbon dioxide is diffused out of the blood into the pulmonary alveoli and oxygen is diffused into the blood. This oxygenated blood is pumped to the left hand side of the heart in the pulmonary vein and enters the left atrium. From here it passes through the mitral valve, through the ventricle and taken all around the body by the aorta. Blood contains antibodies, nutrients, oxygen and much more to avail the body work.
A blood type (also called a blood group) is a classification of blood based on the presence or absence of inherited antigenic substances on the surface of red blood cells (RBCs). These antigens may be proteins, carbohydrates, glycoproteins, or glycolipids, depending on the blood group system.
THE IMPORTANCE OF MARTIAN ATMOSPHERE SAMPLE RETURN.Sérgio Sacani
The return of a sample of near-surface atmosphere from Mars would facilitate answers to several first-order science questions surrounding the formation and evolution of the planet. One of the important aspects of terrestrial planet formation in general is the role that primary atmospheres played in influencing the chemistry and structure of the planets and their antecedents. Studies of the martian atmosphere can be used to investigate the role of a primary atmosphere in its history. Atmosphere samples would also inform our understanding of the near-surface chemistry of the planet, and ultimately the prospects for life. High-precision isotopic analyses of constituent gases are needed to address these questions, requiring that the analyses are made on returned samples rather than in situ.
Cancer cell metabolism: special Reference to Lactate PathwayAADYARAJPANDEY1
Normal Cell Metabolism:
Cellular respiration describes the series of steps that cells use to break down sugar and other chemicals to get the energy we need to function.
Energy is stored in the bonds of glucose and when glucose is broken down, much of that energy is released.
Cell utilize energy in the form of ATP.
The first step of respiration is called glycolysis. In a series of steps, glycolysis breaks glucose into two smaller molecules - a chemical called pyruvate. A small amount of ATP is formed during this process.
Most healthy cells continue the breakdown in a second process, called the Kreb's cycle. The Kreb's cycle allows cells to “burn” the pyruvates made in glycolysis to get more ATP.
The last step in the breakdown of glucose is called oxidative phosphorylation (Ox-Phos).
It takes place in specialized cell structures called mitochondria. This process produces a large amount of ATP. Importantly, cells need oxygen to complete oxidative phosphorylation.
If a cell completes only glycolysis, only 2 molecules of ATP are made per glucose. However, if the cell completes the entire respiration process (glycolysis - Kreb's - oxidative phosphorylation), about 36 molecules of ATP are created, giving it much more energy to use.
IN CANCER CELL:
Unlike healthy cells that "burn" the entire molecule of sugar to capture a large amount of energy as ATP, cancer cells are wasteful.
Cancer cells only partially break down sugar molecules. They overuse the first step of respiration, glycolysis. They frequently do not complete the second step, oxidative phosphorylation.
This results in only 2 molecules of ATP per each glucose molecule instead of the 36 or so ATPs healthy cells gain. As a result, cancer cells need to use a lot more sugar molecules to get enough energy to survive.
Unlike healthy cells that "burn" the entire molecule of sugar to capture a large amount of energy as ATP, cancer cells are wasteful.
Cancer cells only partially break down sugar molecules. They overuse the first step of respiration, glycolysis. They frequently do not complete the second step, oxidative phosphorylation.
This results in only 2 molecules of ATP per each glucose molecule instead of the 36 or so ATPs healthy cells gain. As a result, cancer cells need to use a lot more sugar molecules to get enough energy to survive.
introduction to WARBERG PHENOMENA:
WARBURG EFFECT Usually, cancer cells are highly glycolytic (glucose addiction) and take up more glucose than do normal cells from outside.
Otto Heinrich Warburg (; 8 October 1883 – 1 August 1970) In 1931 was awarded the Nobel Prize in Physiology for his "discovery of the nature and mode of action of the respiratory enzyme.
WARNBURG EFFECT : cancer cells under aerobic (well-oxygenated) conditions to metabolize glucose to lactate (aerobic glycolysis) is known as the Warburg effect. Warburg made the observation that tumor slices consume glucose and secrete lactate at a higher rate than normal tissues.
(May 29th, 2024) Advancements in Intravital Microscopy- Insights for Preclini...Scintica Instrumentation
Intravital microscopy (IVM) is a powerful tool utilized to study cellular behavior over time and space in vivo. Much of our understanding of cell biology has been accomplished using various in vitro and ex vivo methods; however, these studies do not necessarily reflect the natural dynamics of biological processes. Unlike traditional cell culture or fixed tissue imaging, IVM allows for the ultra-fast high-resolution imaging of cellular processes over time and space and were studied in its natural environment. Real-time visualization of biological processes in the context of an intact organism helps maintain physiological relevance and provide insights into the progression of disease, response to treatments or developmental processes.
In this webinar we give an overview of advanced applications of the IVM system in preclinical research. IVIM technology is a provider of all-in-one intravital microscopy systems and solutions optimized for in vivo imaging of live animal models at sub-micron resolution. The system’s unique features and user-friendly software enables researchers to probe fast dynamic biological processes such as immune cell tracking, cell-cell interaction as well as vascularization and tumor metastasis with exceptional detail. This webinar will also give an overview of IVM being utilized in drug development, offering a view into the intricate interaction between drugs/nanoparticles and tissues in vivo and allows for the evaluation of therapeutic intervention in a variety of tissues and organs. This interdisciplinary collaboration continues to drive the advancements of novel therapeutic strategies.
The increased availability of biomedical data, particularly in the public domain, offers the opportunity to better understand human health and to develop effective therapeutics for a wide range of unmet medical needs. However, data scientists remain stymied by the fact that data remain hard to find and to productively reuse because data and their metadata i) are wholly inaccessible, ii) are in non-standard or incompatible representations, iii) do not conform to community standards, and iv) have unclear or highly restricted terms and conditions that preclude legitimate reuse. These limitations require a rethink on data can be made machine and AI-ready - the key motivation behind the FAIR Guiding Principles. Concurrently, while recent efforts have explored the use of deep learning to fuse disparate data into predictive models for a wide range of biomedical applications, these models often fail even when the correct answer is already known, and fail to explain individual predictions in terms that data scientists can appreciate. These limitations suggest that new methods to produce practical artificial intelligence are still needed.
In this talk, I will discuss our work in (1) building an integrative knowledge infrastructure to prepare FAIR and "AI-ready" data and services along with (2) neurosymbolic AI methods to improve the quality of predictions and to generate plausible explanations. Attention is given to standards, platforms, and methods to wrangle knowledge into simple, but effective semantic and latent representations, and to make these available into standards-compliant and discoverable interfaces that can be used in model building, validation, and explanation. Our work, and those of others in the field, creates a baseline for building trustworthy and easy to deploy AI models in biomedicine.
Bio
Dr. Michel Dumontier is the Distinguished Professor of Data Science at Maastricht University, founder and executive director of the Institute of Data Science, and co-founder of the FAIR (Findable, Accessible, Interoperable and Reusable) data principles. His research explores socio-technological approaches for responsible discovery science, which includes collaborative multi-modal knowledge graphs, privacy-preserving distributed data mining, and AI methods for drug discovery and personalized medicine. His work is supported through the Dutch National Research Agenda, the Netherlands Organisation for Scientific Research, Horizon Europe, the European Open Science Cloud, the US National Institutes of Health, and a Marie-Curie Innovative Training Network. He is the editor-in-chief for the journal Data Science and is internationally recognized for his contributions in bioinformatics, biomedical informatics, and semantic technologies including ontologies and linked data.
1. University of Sindh Jamshoro
Name: Rimsha Pahore
Group: Group B
Subject: Genetics
Assignment topic: Types of blood group and Scope of Genetics
Submitted to: Mam Dr Samina Malik
2. Types of Blood Groups in Human.
.
Blood has four main components Plasma, red blood cells, white blood cells and
platelets, 55% of plasma and 44% of Red blood cells and 1% of white blood cells.
Blood do not originate in the bloodstream itself but in specific blood organs
notably the marrow of the certain cells. In human adult the bone marrow produce
all of the red blood cells and platelets but 60 to 70% of white blood cells, reset of
the others form in lymph nodes and spleen.
He classified human blood into A,B,O Groups. A Blood group type refers to the
presence or absence of a certain marker or antigen on the surface of person’s red
blood cells. Or we can say the Types of proteins and glycolipids found or
expressed on the surface of the red blood cell define blood types.
ABO blood group system is the important blood type system in human it is also
present in some other animals like rodents and apes and gorillas.
Blood is a complex tissue, it is a bodily fluid in
humans and other animals that delivers
necessary substances such as nutrients and
oxygen to the cells and transports metabolic
waste product away from those same cells
Human have different types of blood groups nobody
knows before the discovery of the Karl Landsteiner in
1901 he was an Austrian biologist, Physician and
immunologist. And he with Alexander S Weiner
identified the Rhesus factor in 1937. He received noble
prize in physiology and medicine in 1930.
3. The Distinct molecules called Agglutinogens (type of antigen) are attached to the
surface of the red blood cells. There are two different types of Agglutinogens type
A and type B. each type has different properties the ABO blood type classification
system uses the presence or absence of these molecules to categorize blood into
four types.
Among these blood groups the most frequently occurring blood group is O.
If you belong to the Blood Group A , you have A
antigens on the surface of your RBCs and B antibody
in your blood plasma.
Blood Group A
Blood Group B
If you belong to the Blood Group B, you have
antigen B on the surface of the RBCs and A
antibodies in your plasma.
Blood Group AB
If you belong to the blood group AB you have both
A and B antigens on the surface of your RBCs and
no A or B antibodies at all in your blood plasma.
If you belong to the Blood Group O, you have
neither A or B antigens on the surface of your RBCs
but you have both A and B antibodies in your blood
plasma.
Blood Group O
4. Blood types are inherited and represent contributions from both parents as of 2019
a total of 38 human blood group systems are recognized by the international
society of the transfusion. The two most important blood group systems are ABO
and Rh they determine someone’s blood group.
Rh blood group system
This certain blood protein was first discovered in Rhesus monkeys by Karl
Landsteiner and Alexander wiener in 1940 so it is known as Rh blood group
system 2nd
most important blood system some of us have, some of us don’t. if D
antigen of Rh factor is present in your blood than it is Rh positive if your blood
does not contain the D antigen, your blood is said to be Rh negative.
The presence or absence of D antigen determines if the person is Rh+ or Rh- 85%
of the population is Rh positive, the other 15% of the population is Rh negative.
The Rh antigen poses a danger for the Rh negative person, who lacks the antigen if
Rh positive blood is given in transfusion, adverse effects may not occur the first
time Rh incompatible blood is given, but the immune system responds to the
foreign Rh antigen by producing Rh antibodies. If Rh positive blood is given again
after the antibodies form, they will attack the foreign blood cells, causing them to
clump together or agglutinate. The resulting haemolysis, or destruction of the red
blood cells, causes serious illness and sometimes death.
Positive And Negative blood group.
5. Multiple Alleles:-
General appearance of a living organism depends upon a pair of genes present at a
fixed position on a chromosome. This pair of genes is found in two forms, one is
dominant and another is recessive. But it happens that for a certain character more
than two genes or many types of alleles are present.
When one gene is found in the form of many alleles on the same locus these alleles
are called multiple alleles. They control only a particular character of the body,
multiple alleles are more than two alleles affecting a given trait.
The most common example as we have discussed about blood group types, on the
red blood corpuscles RBCs certain proteins are present called antigens these
antigens are of two types A and B, similarly lacking both of these leads to O, it is
found that there are three alleles responsible for this trait gene.
Therefore these three alleles can have only four possible combinations.
Homozygous A or Heterozygous
Homozygous B or Heterozygous
Heterozygous AB
Homozygous O
Or
6. For Example:-
There are so many examples like these, human blood group type are inherited from
our biological parents in the same way as eye color and other genetic trait. Within
these genes the A and B is Co dominant these will expressed whenever the gene is
present. The O gene is silent and only expressed when neither A nor B is present.
Father Homozygous AA Mother Homozygous ii
All offspring will have blood group A
Because Dominant always show its trait
against recessive
Father Heterozygous Ai Mother Homozygous ii
Half of the offspring will be A and
other half O
Father is heterozygous Ai Mother heterozygous Bi
Than all the blood group can be
appear in their offspring According
to science this is best match.
7. Scope and importance of Genetics
The branch of biology deals with the facts and laws of heredity and inherited
variations in organism is called Genetics. Though heredity had been observed for
millennia, Gregor Mendel a scientist and Augustinian working in the 19th
century
was first to study genetics scientifically and performed several experiments that
lead him to that path and he become the Father of Genetics. Genetics is important
to us individually
Genetics help us to understand what makes us unique (one of the kind) and why
families look alike.
Genetics help us to understand how genetic information is encoded, replicated
and gene regulation processed and the process that control expression of the
genes.
It helps us why some diseases like diabetes or cancer or hypertension run in
families, and help to understand their risk of passing it on to their children.
Genetics help to find criminals , criminals often leave evidence of their identity
at a crime scene for example hair follicles, blood or skin cells The Geneticists
can use the genetic information to demonstrate whether they were present or
not.
Genetics also help to treat various types of disease as gene therapy has been
found to immensely helpful to treat various forms of cancers, certain viral
infections where replacing a mutated gene or inactivating that causes disease
with a healthy copy of genes, gene therapy is still going through a lot of
research and development the technique remains risky and is still under study to
make sure that it will be safe and effective. Gene therapy is currently being
tested only for diseases that have no other cures.
8. Genetics also help us in understanding of the human origin.
Genetics help in agriculture as cross breeding of two animals each with some
good traits to produce offspring with good traits, help in food production it also
help in better resistance to pests and diseases and improved nutritional value.
Genetics help us with the help of DNA to identify the mummies and learn more
about ancient civilization.
Genetics help to improve the quality of life by blood transfusion, because blood
typing is based on genetic knowledge of the blood groups.
Genetics also help in pre natal diagnosis (Diagnosis a genetic condition or
condition in a developing fetus).
Genetics also help us to know about drug sensitively and how to prevent it.
Genetics also enable pharmaceutical industry by adding an ability to develop
newer drugs mainly using a technology known as DNA recombinant
technology; it helps to produce vaccine, insulin, blood clotting factors etc.