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Genetics 1859
- The study of heredity in general and of genes in ● Alfred Russel Wallace
particular - Postulated the theory of evolution by
Heredity natural selection
- The passing on of physical/mental ● Charles Darwin
characteristics genetically from one gen. - Observation during his circumnavigation
to another of the globe aboard the HMS Beagle
Genes (1831-36) provided evidence for natural
- A distinct sequence of nucleotides selection and his suggestion that
forming part og a chromosome, the order humans and animals shared a common
of which determines the order of ancestry
monomers in a polypeptide or nucleic
acid molecule which a cell (or a virus) 1866
may synthesize ● Gregor Johann Mendel
- His meticulous studies mark the birth of
istorical Background
H modern genetics
5000 B.C.
● Early nomadic tribes ( The inheritance of genes closely paralleled the
- First humans to settlements that practice inheritance of chromosomes during nuclear divisions,
farming appear to have selected crop called meiosis, that occur in the cell divisions just before
plants w/ favorable qualities gamete formation)
- Old carvings show cross-pollination of
date palm trees 1882
● Hippocrates ● Walter Fleming
- Father of medicine - Discovered chromosomes w/ the Greek
- Devised pangenesis prefix meaning “colour” (because they
- Believed in the inheritance of acquired become stained when cells are dyed)
characteristics
- Postulated that all organs of the body of 1905
a parent gave off invisible SEEDS which ● William Bateson
were like miniaturized building - Created the term “genetics”
components and were transmitted during
sexual intercourse, reassembling 1910
themselves in the mother’s womb to ● Thomas Hunt Morgan
form a baby - The idea of linked-genes strengthened
● Aristotle through the demonstration of parallel
- Emphasize the importance of blood in inheritance of certain Drosophila (a type
heredity of fruit fly) genes on sex-determining
- He thought that the blood supplied chromosomes
generative material for building all parts - Together w/ his student, Alfred Henry
of the adult body, and he reasoned that Sturtevant showed not only that certain
blood was the basis for passing on this genes seemed to be linked on the same
generative power to the next-gen. chromosome but thedistance bet. genes
- Believed that a male’s semen was on the same chromosome could be
purified blood; a woman’s menstrual calculated by measuring the freq. at
blood; these male and female which new chromosomal combi. arose
contributions united in the womb to
produce a baby 1925
● Hermann Joseph Muller
- howed that new alleles (called
S 1973
mutations) could be produced at high ● Herb Boyer
freq. by treating cells w/ X-rays, the 1st - uses enzymes to cut DNA and splice it
demo of an env. mutagenic agent into bacterial plasmids, which then
(mutations can also arise spontaneously) replicate producing many copies of the
● Harriet Creighton and Barbara McClintock inserted gene. This heralds the dawn of
- demonstrated that new allelic combi. of genetic engineering
linked genes were correlated w/ - 1978:
physically exchanged chromosome - Genetically modified bacteria
parts. produce the hormone insulin.
1944 - 1983:
● Archibald Garrod - The gene for Huntington’s
- proposed the important idea that the disease is mapped to a
human disease alkaptonuria, and certain chromosome for the first time.
other hereditary diseases, were caused
by inborn errors of metabolism, 1986
suggesting for the first time that linked ● K ary Mullis in the US develops the Polymerase
genes had molecular action at the cell Chain Reaction (PCR), enabling rapid production
level. of DNA copies.
● George Beadle and Edward Tatum 1973:
- showed that the genes they were ● Genetic engineering begins with Herb Boyer
studying in the fungus Neurospora splicing DNA into bacterial plasmids, marking the
crassa acted by coding for catalytic dawn of genetic engineering.
proteins called enzymes. 1990:
● Oswald Avery, Colin M. MacLeod, and Maclyn ● The Human Genome Project begins to sequence
McCarty the entire human genetic code. Gene therapy
- showed that bacterial genes are made of successfully treats a girl with adenosine
DNA deaminase deficiency.
1994:
1953 ● FlavrSavr tomatoes, genetically modified for a
● J ames D. Watson, Francis Crick, and Maurice longer shelf-life, become the first GM product on
Wilkins sale in the US.
- devised a double helix model for DNA 1996:
structure. ● Baker’s yeast, Caenorhabditis elegans,
● Sydney Brenner Arabidopsis, and Drosophila have their genomes
- showed that the genetic code must be completed.
read in triplets of nucleotides, called 2000:
codons ● The draft human genome is completed, with
30,000 to 40,000 genes, by Celera Genomics
1961 and the Human Genome Project.
● François Jacob and Jacques Monod 2003:
- established the prototypical model for ● The first genetically modified pet, a tropical fish
gene regulation by showing that bacterial that fluoresces red, goes on sale in the US.
genes can be turned on (initiating
transcription into RNA and protein
Areas of Study under Genetics:
synthesis) and off through the binding
action of regulatory proteins to a region 1. C
lassical Genetics: Concerned with the
just upstream of the coding region of the transmission of genetic traits in plants and
gene. animals.
2. C ytogenetics: Focuses on inheritance related to
chromosome structure and function.
3. Microbial Genetics: Studies heritable information
Structure:
mechanisms in microorganisms.
4. Molecular Genetics: Examines DNA structure, ● Chromosome
cellular activities, and genetic influence on ○ Thread-like structures made of protein
organisms. and DNA.
5. Genomics: Involves the structure, function, ○ Serve to carry genomic information from
evolution, and mapping of genomes. cell to cell.
6. Population Genetics: Analyzes genetic ○ Compactness is a defining feature.
composition changes in populations due to ○ Compactness helps organize genetic
natural selection, drift, mutation, and gene flow. material during cell division.
7. Behaviour Genetics: Studies heredity's impact on ○ Enable genetic material to fit inside cell
behavior. structures like the nucleus.
8. Human Genetics: Investigates inheritance of
characteristics in children from parents. ● Centromere or Kinetochore:
○ Primary constriction where chromatids or
spindle fibers attach.
Applications of Genetics in Medicine:
○ Enables chromosome movement during
● D iagnosing and Treating Inherited Disorders: anaphase of cell division.
Genetic techniques help diagnose and treat ● Chromatid:
inherited human disorders. ○ Each half of a chromosome joined at the
● Family History Analysis: Knowledge of family centromere.
history can indicate hereditary tendencies for ○ Contains DNA and separates during
conditions like cancer. Anaphase to form separate
● Newborn Screening: Genetic abnormalities in chromosomes.
newborns can be detected early through ○ Both chromatids are attached to each
techniques like chorionic villus sampling and other by the centromere.
amniocentesis. ● Chromatin:
● Gene Therapy: Involves modifying defective ○ Complex of DNA and proteins forming
genotypes by adding functional genes made chromosomes in the nucleus.
through recombinant DNA technology. ○ Highly condensed DNA wrapped around
nuclear proteins.
○ Consists of DNA, RNA, and protein.
Applications of Genetics in Industry:
● P harmaceutical Industry: Develops high-yield
Two Major Types of Chromatin:
antibiotic strains from microorganisms like fungi
and bacteria. 1. Euchromatin:
● Biotechnology: Utilizes recombinant DNA ○ Loosely packed chromatin.
technology for various industrial purposes. ○ Contains actively transcribed genes.
● Agriculture and Animal Husbandry: Breeders use ○ Appears less condensed and more
genetic techniques to improve plant varieties and accessible for transcription.
create transgenic crop plants. ○ Plays a role in gene expression and
● Industrial Production: Designer transgenic regulation.
organisms are used to manufacture commercial 2. Heterochromatin:
products like pharmaceutical drugs and industrial ○ Densely packed chromatin.
chemicals ○ Rich in repetitive sequences.
○ Genes in heterochromatin are typically
not transcribed.
○ Important for maintaining chromosome ○ C hromosomes contain histone and
structure and stability. non-histone proteins that regulate gene
action.
● Telomere: ○ Cellular molecules regulate genes by
○ Terminal region of each chromosome. activating or deactivating these proteins,
● Chromonema: which can expand or contract the
○ Threadlike coiled filamentous structure chromosome.
along with chromomeres are arranged.
● Chromomeres:
Types of Chromosomes:
○ Bead-like structures on chromonema,
responsible for gene transfer. ● Metacentric Chromosomes:
○ Arranged in a row along the length of ○ Centromere present exactly in the
chromonema. center.
○ Responsible for carrying genes during ○ Both sections are of equal length.
cell division to the next generation. ○ Example: Human chromosomes 1 and 3.
● Pellicle ● Submetacentric Chromosomes:
○ The membrane surrounding each of the ○ Centromere slightly offset from the
chromosomes. center.
○ Provides structural support and ○ Sections are not of equal length or are
protection to the chromosomes. asymmetrical.
○ Essential for maintaining the integrity of ○ Example: Human chromosomes 4 to 12.
the genetic material. ● Acrocentric Chromosomes:
○ Acts as a barrier between the ○ Centromere highly offset from the center.
chromosomes and the external ○ One strand is very long, and one is very
environment. short.
● Matrix ○ Example: Human chromosomes 13, 15,
○ Jelly-like substance present inside the 21, and 22.
pellicle. ● Telocentric Chromosomes:
○ Contains non-genetic materials. ○ Centromere present at the very end of
the chromosome.
○ Found in species such as mice.
Functions of Chromosomes:
1. Carrying Genetic Material:
evels of Structural Organization in Eukaryotic
L
○ The most important function of
Chromosomes:
chromosomes is to carry the basic
genetic material – DNA. 1. First Level of Compaction:
2. Protection of Genetic Material: ○ Core histones act as a spool around
○ Histones and other proteins covering which DNA is coiled to form
chromosomes protect DNA from nucleosomes.
chemical and physical forces during cell ○ Nucleosomes are like "beads on a string"
division. along the DNA.
3. Precise DNA Distribution: ○ Linker DNA connects nucleosomes,
○ Spindle fibers attached to centromeres making the DNA molecule shorter.
contract during cell division to ensure 2. Second Level of Compaction:
precise distribution of DNA to daughter ○ Histone H1 helps compact DNA and
nuclei. nucleosomes into a 30nm fiber.
4. Regulation of Gene Action: 3. Final Level of Compaction:
○ S caffold proteins wind the 30nm fiber ● M itosis is the division of the nucleus into two
into coils, which are further wound genetically identical daughter nuclei.
around other scaffold proteins. ● Mitosis consists of four main stages: prophase,
○ Scaffold proteins bring together multiple metaphase, anaphase, and telophase.
proteins in a stable configuration. ● During prophase, chromosomes condense, the
spindle apparatus forms, and the nuclear
envelope breaks down.
Cell Cycle:
● Metaphase is characterized by chromosomes
● T he cell cycle is the sequence of events that aligning at the cell's equator.
occur between one cell division and the next. ● Anaphase involves the separation of sister
● It consists of interphase (G1, S, G2 phases) and chromatids towards opposite poles of the cell.
mitotic phase (mitosis and cytokinesis). ● Telophase marks the reformation of nuclear
● Interphase is the longest phase where the cell envelopes around the separated chromosomes.
grows, replicates DNA, and prepares for division. ● Cytokinesis follows mitosis and involves the
● Mitotic phase includes mitosis (division of the division of the cytoplasm to form two daughter
nucleus) and cytokinesis (division of the cells.
cytoplasm). ● The mitotic phase ensures accurate distribution
● Mitosis ensures genetic stability by producing of genetic material to daughter cells during cell
two identical daughter cells. division.
● Cytokinesis completes the cell division process
by separating the cytoplasm and organelles.
Summary:
● The cell cycle is crucial for growth, development,
asexual reproduction, and tissue repair in ● M itosis is essential whenever new cells are
multicellular organisms. needed.
● It ensures the production of genetically identical
daughter cells.
Interphase:
● Mitosis is crucial for various processes:
● Interphase is the phase of the cell cycle where ○ Embryonic development: Zygotes
the cell spends most of its time. undergo mitosis and differentiation to
● It consists of three subphases: G1 phase, S develop into embryos.
phase, and G2 phase. ○ Growth: Multicellular organisms increase
● G1 phase is the first gap phase where the cell in size by increasing cell numbers
grows and carries out normal functions. through mitosis.
● S phase is the synthesis phase where DNA is ○ Asexual reproduction: Certain eukaryotic
replicated, producing sister chromatids. organisms reproduce asexually through
● G2 phase is the second gap phase where the mitosis.
cell continues to grow and prepares for mitosis. ○ Tissue repair: Damaged tissues recover
● During interphase, centrioles and organelles like by replacing dead or damaged cells
mitochondria and chloroplasts are replicated in through mitosis.
preparation for cell division. ● The cell cycle involves interphase for growth and
● Interphase is essential for the cell to grow, DNA replication, followed by the mitotic phase for
replicate DNA, and ensure all components are cell division.
ready for the next stages of the cell cycle. ● Mitosis ensures genetic stability and identical
daughter cells, supporting growth, development,
Mitotic Phase: and tissue maintenance in multicellular
organisms.
● T he mitotic phase is the stage of the cell cycle
where cell division occurs.
● It includes mitosis and cytokinesis.
Phases of Mitosis: Production of Genetically Identical Nuclei in Mitosis:
1. Prophase: 1. Replication of DNA:
○ Chromosomes condense and become ○ Before mitosis begins, DNA is replicated
visible. during the S phase of interphase.
○ Spindle fibers form from the microtubule ○ Each chromosome consists of two
organizing center (MTOC). identical sister chromatids held together
○ Centrioles move to opposite poles in at the centromere.
animal cells. 2. Prophase:
○ Nuclear envelope breaks down. ○ Chromosomes condense and become
2. Metaphase: visible.
○ Chromosomes align at the cell's equator. ○ The nuclear envelope breaks down, and
○ Spindle microtubules attach to the spindle apparatus forms.
chromosomes via the centromere. 3. Metaphase:
3. Anaphase: ○ Chromosomes align at the cell's equator.
○ Sister chromatids separate and move ○ Spindle fibers attach to the centromeres
towards opposite poles. of sister chromatids.
○ Cell elongates as spindle fibers push 4. Anaphase:
chromatids apart. ○ Sister chromatids separate and move
4. Telophase: towards opposite poles of the cell.
○ Chromosomes reach poles and uncoil. ○ Each pole receives an identical set of
○ Nuclear envelopes reform around chromosomes.
separated chromosomes. 5. Telophase:
○ Cytokinesis divides the cytoplasm, ○ Chromosomes reach the poles and
completing cell division. decondense.
○ Nuclear envelopes reform around the
separated chromosomes.
Cytokinesis:
6. Cytokinesis:
● C ytokinesis is the final stage of cell division ○ The cytoplasm divides, forming two
following mitosis. daughter cells, each with a genetically
● It involves the physical separation of the identical nucleus.
cytoplasm and organelles to form two daughter Through these stages, mitosis ensures that each
cells. daughter cell receives an identical set of chromosomes,
● In animal cells, a ring of contractile proteins resulting in the production of two genetically identical
(actin microfilaments) forms at the equator, nuclei.
pulling the plasma membrane inward to create a
cleavage furrow.
nsuring Genetic Identity in Daughter Cells through
E
● The cleavage furrow deepens until the cell is
Mitosis:
pinched into two daughter cells.
● In plant cells, membrane-enclosed vesicles from 1. DNA Replication:
the Golgi apparatus migrate to the cell's center. ○ Before mitosis, DNA is replicated during
● These vesicles fuse to form tubular structures interphase, ensuring each chromosome
that develop into a cell plate, dividing the cell into consists of two identical sister
two daughter cells. chromatids.
● Cytokinesis ensures the complete separation of 2. Chromosome Alignment:
cellular contents, allowing each daughter cell to ○ During metaphase, chromosomes align
function independently. at the cell's equator in a precise manner.
3. Sister Chromatid Separation:
○ In anaphase, sister chromatids separate 2. Crossing Over:
and move to opposite poles of the cell. ■ During prophase I, crossing over
4. Equal Distribution: occurs where genetic material is
○ Each daughter cell receives an identical exchanged between non-sister
set of chromosomes, ensuring genetic chromatids of homologous
equivalence. chromosomes.
5. Nuclear Reformation: ■ This results in new allele
○ In telophase, nuclear envelopes reform combinations, increasing genetic
around the separated chromosomes in variation.
each daughter cell. 3. Condensation:
6. Cytokinesis: ■ Chromosomes condense and
○ The cytoplasm divides, forming two become visible under the
daughter cells, each with a genetically microscope.
identical nucleus. 4. Increase in Variation:
By following these steps, mitosis guarantees that the ■ Crossing over and independent
daughter cells are genetically identical, maintaining assortment during meiosis lead
genetic continuity and stability in cell division. to genetic diversity in the
resulting gametes.
These early stages of meiosis play a crucial role in
generating genetic diversity by mixing genetic material
Meiosis:
between homologous chromosomes, ultimately
● E ssential Idea: Meiosis produces genetically contributing to the variability seen in offspring.
varied, haploid cells needed for sexual
reproduction.
● One diploid nucleus divides by meiosis to
Meiosis I:
produce four haploid nuclei.
● Meiosis is a type of cell division that produces ● P urpose: Meiosis I is the first stage of meiosis,
gametes (sex cells). involving the reduction division.
● It involves two main stages: Meiosis I and ● Key Events:
Meiosis II. 1. Prophase I:
● Meiosis is termed a reduction division as it ■ Homologous chromosomes pair
halves the chromosome number. up to form bivalents through
● Early stages involve pairing of homologous synapsis.
chromosomes, crossing over, and condensation. ■ Crossing over occurs,
● Crossing over during synapsis results in new exchanging genetic material
allele combinations, increasing genetic variation. between chromatids.
● Separation of homologous chromosomes in 2. Metaphase I:
Anaphase I halves the chromosome number. ■ Bivalents align at the cell's
● The process ultimately leads to the formation of equator.
four haploid cells essential for sexual ■ Spindle fibers attach to
reproduction. homologous chromosomes.
■ Independent assortment
happens
Early Stages of Meiosis:
3. Anaphase I:
● Key Processes: ■ Homologous chromosomes
1. Pairing of Homologous Chromosomes: separate and move to opposite
■ Homologous chromosomes pair poles.
up to form bivalents through a ■ Disjunction occurs, halving the
process called synapsis. chromosome number.
4. Telophase I: Two Major Features of Meiosis:
■ Chromosomes reach the poles,
1. Genetic Variation:
and nuclear envelopes may
○ Meiosis generates genetically varied
reform.
haploid cells through processes like
■ Cytokinesis divides the cell into
crossing over and independent
two daughter cells, each haploid.
assortment.
Meiosis I ensures genetic diversity through the shuffling
○ Crossing over during prophase I results
of genetic material during crossing over and the
in the exchange of genetic material
separation of homologous chromosomes, leading to the
between homologous chromosomes,
formation of haploid cells with unique genetic
creating new allele combinations.
combinations.
○ Independent assortment during
The early stages of meiosis, including the pairing of
metaphase I leads to random alignment
homologous chromosomes, crossing over, and
of homologous pairs, contributing to
condensation, occur during Meiosis I. Meiosis I is where
genetic diversity in offspring.
these crucial events take place, leading to genetic
2. Reduction Division:
recombination and the reduction of chromosome number
○ Meiosis involves two consecutive
before the subsequent division in Meiosis II.
divisions (Meiosis I and Meiosis II) that
result in the halving of the chromosome
Meiosis II: number.
○ During Meiosis I, homologous
● P urpose: Meiosis II is the second stage of
chromosomes separate, reducing the
meiosis, following Meiosis I.
chromosome number from diploid to
● Key Events:
haploid.
1. Prophase II:
○ Meiosis II separates sister chromatids,
■ A brief phase where a new
ensuring each resulting gamete has a
spindle apparatus forms in each
single set of chromosomes.
haploid cell.
These two major features of meiosis, genetic variation,
2. Metaphase II:
and reduction division, are essential for sexual
■ Chromosomes align at the
reproduction and the production of genetically diverse
equator of each cell.
gametes.
■ Spindle fibers attach to the
centromeres of sister
chromatids.
3. Anaphase II:
■ Sister chromatids separate and Mendelian Inheritance:
move towards opposite poles.
● G regor Mendel's experiments with pea plants in
4. Telophase II:
1866 revealed specific patterns of inheritance.
■ Chromosomes reach the poles,
● Mendel's conclusions included the non-blending
and nuclear envelopes may
of traits, the masking of inheritable factors, and
reform.
the inheritance of two different factors from
■ Cytokinesis divides each cell into
parents.
two daughter cells, resulting in a
● Monohybrid crosses track the inheritance of a
total of four haploid cells.
single character, showing a 3:1 ratio in the F2
Meiosis II is essential for further separating sister
generation.
chromatids, resulting in the production of four haploid
● Mendel observed dominant and recessive alleles
cells, each with a unique genetic composition.
for traits like flower color, seed shape, and pea
color.
● T
he Law of Independent Assortment states that uring gamete formation, leading to different
d
hereditary factors assort independently during combinations of alleles in the offspring.
gamete production. In a monohybrid cross, the Punnett square is used to
predict the genotypes and phenotypes of the offspring
based on the genotypes of the parents and the
Mendel's Conclusions:
inheritance pattern of the specific trait being studied.
1. N on-Blending Inheritance: Inheritance is not
blended, as traits remain distinct and do not mix.
2. Masking of Inheritable Factors: The inheritable
Dihybrid Cross:
factor for a trait like white color was not lost but
masked by the presence of another factor like dihybrid cross is a genetic cross that tracks the
A
purple color. inheritance of two different traits controlled by two genes
3. Two Different Factors Inherited: Hybrid plants located on different chromosomes. It involves the mating
inherit one factor from each parent, resulting in of individuals that are heterozygous for both traits to
two different factors. observe the segregation of alleles and the expression of
4. Segregation of Factors: During gamete both traits in the offspring.
formation, male and female gametes pass on
either the dominant or recessive factor, not both,
Key Points about Dihybrid Crosses:
following the Law of Segregation.
● T wo Traits: In a dihybrid cross, two different traits
are considered simultaneously, each controlled
Principles of Mendelian Inheritance:
by a separate gene.
1. L aw of Segregation: Each individual has two ● Four Alleles: There are two pairs of alleles to
alleles for a trait, which segregate during gamete consider for the two traits, leading to multiple
formation, with each gamete receiving one allele. possible combinations in the offspring.
2. Law of Independent Assortment: Different pairs ● Expected Ratios: Dihybrid crosses can result in
of alleles segregate independently of each other various expected genotype and phenotype ratios
during gamete formation, providing an equal in the offspring, depending on the alleles present
opportunity for different combinations of traits to in the parents.
occur. ● Independent Assortment: The Law of
Independent Assortment states that alleles of
different genes segregate independently during
Punnett Square:
gamete formation, leading to different
Punnett square is a grid used to predict the possible
A combinations of traits in the offspring.
genotypes and phenotypes of offspring in a genetic In a dihybrid cross, Punnett squares can be used to
cross. It is based on Mendel's principles of inheritance predict the genotypes and phenotypes of the offspring
and helps visualize the combinations of alleles that can based on the genotypes of the parents for the two traits
result from the mating of two individuals. being studied.
Monohybrid Cross: Types of Dominance:
monohybrid cross is a genetic cross that tracks the
A 1. Complete Dominance:
inheritance of a single trait controlled by a single gene. It ○ Inheritance pattern where one allele is
involves the mating of individuals that are heterozygous fully expressed, masking the effect of the
for a particular trait to observe the segregation of alleles other recessive allele in heterozygous
and the expression of the trait in the offspring. individuals.
Principle of Segregation: Apply Mendel's Principle of 2. Incomplete Dominance:
Segregation, where alleles segregate independently ○ Intermediate inheritance where one
allele does not completely dominate the
ther, resulting in a blending of
o ● C ompatibility: Understanding blood groups
phenotypes in heterozygous individuals. crucial for transfusions to prevent immune
3. Co-dominance: reactions.
○ Occurs when both alleles in a ● Significance: ABO blood groups play a vital role
heterozygous individual are expressed in transfusion medicine and genetic inheritance
equally, leading to a phenotype that studies.
shows characteristics of both alleles The history of blood groups highlights the evolution of
without blending. knowledge and understanding of blood compatibility,
Each type of dominance influences how traits are leading to safer transfusion practices and advancements
expressed in offspring based on the interactions between in medical genetics.
alleles and their dominance relationships.
Antigens and Antibodies:
● Antigens:
Inheritance of ABO Blood Groups:
○ Carbohydrates attached to proteins or
● G ene Location: ABO blood group is determined lipids on cell surfaces.
by a single gene on Chromosome 9. ○ Induce immune responses in the host
● Multiple Alleles: The gene has three alleles: IA (A organism.
antigen), IB (B antigen), and i (no antigen). ○ ABO blood group antigens determine
● Co-dominance: IA and IB alleles are blood types (A, B, AB, O).
co-dominant, resulting in the AB blood type ○ Rh factor is another antigen present (+)
where both antigens are expressed. or absent (-) in blood.
● Recessive Allele: The i allele is recessive and ● Antibodies:
results in the O blood type with no antigens. ○ Large Y-shaped proteins produced by
● Antigen Production: IA adds plasma cells.
acetyl-galactosamine, IB adds galactose, and i ○ Part of the immune system to neutralize
produces the basic glycoprotein. pathogens like bacteria and viruses.
● Compatibility: Mismatched blood types can lead ○ Anti-A and anti-B antibodies react with A
to immune reactions due to the presence of and B antigens in blood.
antigens and antibodies. ○ Rh antibodies can cause immune
Understanding the inheritance of ABO blood groups reactions in Rh-incompatible
involves the interaction of multiple alleles, co-dominance, transfusions.
and the presence or absence of specific antigens on red Antigens and antibodies play crucial roles in immune
blood cells, influencing blood type compatibility and responses, blood compatibility, and transfusion medicine
transfusion outcomes. by determining blood types and potential immune
reactions during transfusions.
History of Blood Groups:
ABO Blood Group Information:
● 1 800s: Surgeons began human blood
transfusions, noting varying outcomes due to ● IB Allele:
blood compatibility issues. ○ Alters glycoprotein by adding galactose.
● Early 1900s: Scientists discovered different ○ Absent in individuals without the IB
glycoproteins on red blood cells determining allele.
blood types. ● Genotype IAIB:
● ABO System: ABO blood group system identified ○ Alters glycoprotein with
with multiple alleles (IA, IB, i) on Chromosome 9. acetyl-galactosamine and galactose.
● Co-dominance: IA and IB alleles are ○ Results in co-dominance where neither
co-dominant, leading to the AB blood type anti-A nor anti-B antibodies are
expression. produced.
● Recessive Allele i:
○ Produces the basic glycoprotein.
○ Presence of IA or IB alleles masks the
effects of the i allele.
Understanding the effects of different alleles (IB, IAIB, i)
on glycoprotein production in the ABO blood group
system helps explain the inheritance patterns and
antigen-antibody interactions in determining blood types.
Rh (Rhesus) Factor:
● T he third antigen in blood, known as the Rh
factor, can be present (+) or absent (-).
● Rh-negative blood is typically given to
Rh-negative patients to avoid immune reactions.
● Rh-positive or Rh-negative blood can be given to
Rh-positive patients without major issues.
Understanding the Rh factor is crucial in blood
transfusions to prevent adverse reactions and ensure
compatibility between donors and recipients based on
the presence or absence of the Rh antigen.
Blood Type Information:
● U niversal Donor: O- blood type is the universal
donor as it lacks antigens that could be rejected
by recipients.
● Universal Recipient: AB+ blood type is the
universal recipient as it has all antigens and can
receive any blood type without rejection.
● Plasma Donation: Plasma from AB+ donors is
universal due to the absence of antibodies,
making it compatible with all blood types.
● Emergency Situations: Identifying universal
donors like O- can be life-saving in emergencies
without time for blood type testing.
Understanding the characteristics of different blood types
and their compatibility is crucial in emergency medical
situations to ensure rapid and safe blood transfusions.
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