BLOOD BANKING

CHAPTER 2 BASIC GENETICS

INTRODUCTION
● Science of Genetics - the study of - All areas of transfusion
heredity; one of the most important medicine are influenced by
areas of modern biology. genetics, including HLA
● 3 Different Levels: typing, relationship testing,
1. Population Genetics - and the prediction of the
concerning genetic traits in phenotype of red cell,
large numbers of individuals. platelet, and neutrophil
2. Cellular Genetics - which antigens.
pertains to the cellular ● Phenotype - antigens present
organization of genetic on all blood cells,, but it is the
material. genotype of the organism
3. Molecular Genetics - based that controls what antigens
on the biochemistry of genes may be expressed on the cell.
and the structures that ● Genotype - the genetic
support them. constitution of living
organisms.
CLASSIC GENETICS ● Single Nucleotide
- based upon the Polymorphism (SNP) - the
understanding of the majority are the result of a
biochemical and biophysical change of one nucleotide.
nature of nucleic acids,
including deoxyribonucleic
acid (DNA), ribonucleic acid
(RNA), and the various
proteins that are part of the
chromosomal architecture.

-
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CHAPTER 2 BASIC GENETICS

POPULATION GENETICS survive in a given

- The major areas of environment, which is
population genetics of referred to as “natural
concern to blood banking selection.”
include Mendel’s laws of ● 1856
inheritance, the - The science of genetics found
HardyWeinberg principle, and its modern development in
inheritance patterns. the work of Gregor Mendel; an
Austrian monk and
Early Genetics and Mendel’s Laws mathematician who used
of Inheritance sweet pea plants growing in
● 17th Century a monastery garden to study
- Carolus Linnaeus, a Swedish physical traits in organisms
biologist that started the first and how they are inherited.
classification system of living - He determined that physical
things and used the unit of traits are due to factors he
“species” as its principal called elementen within the
definition. cell.
● 1859 - Elemen are genes within the
- Charles Darwin published his nucleus of the cell.
epic book On the Origin of
Species after many years of Mendel studied the inheritance of
intense study of various and several readily observable pea
diverse life-forms. plant characteristics, notably flower
- His ambition was to color, seed color, and seed shape.
understand the diversity of He based his first law of inheritance,
life and how one organism the law of independent or random
could gain an advantage segregation, on these results.
over another and better
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CHAPTER 2 BASIC GENETICS

● First Generation: Parental, Pure, or P1 because the plants that have the R
Generation gene, either RR homozygous or Rr
- Consisted of all red or all white heterozygous, will have red flowers
flowers that bred true for many because the red gene is dominant.
generations ➢ This illustrates Mendel’s first law,
- The plants were either the law of independent
homozygous for red flowers (RR, a segregation. Specifically, Mendel’s
dominant trait) or homozygous for first law shows that alleles of genes
white flowers (rr, a recessive trait). have no permanent effect on one
- When these plants were another when present in the same
crossbred, came the F1. plant but segregate unchanged by
● Second Generation passing into different gametes.
First-filial, or F1 Each gene is passed on to the next
- Had flowers that were all red. generation on its own.
- Thus the dominant trait was
the only trait observed. Mendel’s second law is the law of
- F1 generation consists of independent assortment and
plants whose phenotype is states that genes for different traits
the same as that of the are inherited separately from each
dominant parent. other.
Second-filial, or F2
- Had flowers that were red Hardy-Weinberg Principle
and white in the ratio of 3:1. G.H. Hardy, a British mathematician,
➢ All the plants from the F1 and W. Weinberg, a German
generation are heterozygous (or physician, developed a
hybrid) for flower color (Rr). mathematical formula that allowed
➢ The F2 generation has a ratio of the study of Mendelian inheritance
three red-flowered plants to one in great detail.
white-flowered plant. This is
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● Hardy-Weinberg formula: CELLULAR GENETICS

p+q=1 Organisms may be divided into two
p equals the gene frequency of the major categories:
dominant allele and q is the 1. Prokaryotic: without a defined
frequency of the recessive allele. nucleus.
2. Eukaryotic: with a defined
nucleus

➢ Human beings and all other

mammals are included in the
eukaryotic group, as are birds,
● Criteria for Use of reptiles, amphibians, fish, and
Hardy-Weinberg Formula some fungus species.
1. The population studied must
be large. The nuclear material is organized
2. Mating among all individuals into chromatin, consisting of
must be random. nucleic acids and structural
3. Mutations must not occur in proteins, and is defined by staining
parents or offspring. patterns.
4. There must be no migration, ● Heterochromatin stains as
differential fertility, or dark bands
mortality of genotypes ● Achromatin stains as light
studied. bands and consists of highly
condensed regions that are
Inheritance Patterns usually not transcriptionally
active.
● Euchromatin is the swollen
form of chromatin in cells,
which is considered to be
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CHAPTER 2 BASIC GENETICS

more active in the synthesis ● Anaphase - the cellular spindle

of RNA for transcription. apparatus is formed and the
chromosomes are pulled to
Mitosis opposite ends of the cell. The cell
- The process by which somatic becomes pinched in the middle,
cells divide to create identical and cell division starts to take
daughter cells. place.
● Telophase - the cell is pulled
apart, division is complete, and
the chromosomes and
cytoplasm are separated into
two new identical daughter cells.

● Interphase - resting stage when

the cells are not actively dividing.
● Prophase - the chromatin
condenses to form visible
chromosomes and the nuclear
envelope starts to break down.
● Metaphase - chromosomes are
lined up along the middle of the
nucleus and paired with the
corresponding chromosome.
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Meiosis ● Second Prophase - which

- Used to produce gametes or sex
cells that results in four unique,
rather than two identical, daughter
cells.
chromosomes are condensed
● Second Metaphase - with the
centromeres dividing.
● Second anaphase and
telophase stages - the two cells
divide, giving rise to four 1N
daughter cells.

- The first stages of meiosis are

nearly identical to those in mitosis,
in which chromatin is condensed,
homologous chromosomes are
paired in prophase, and
chromosomes are aligned along
the center of the cell. However,
there is no centromere division, and
at anaphase and telophase, the
cell divides and enters once again
into interphase, in which there is no
replication of DNA.
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Cell Cycle