TOPIC I- INTRODUCTION TO GENETIC

GENETICS
- the study of heredity
-the most fundamental life science
- comes from Latin word genesis which means birth

THREE BRANCHES OF GENETICS

1. TRANSMISSION GENETICS
- seeks to explain the patterns of the transmission of traits from one generation to the next
- started with Gregor Mendel, an Austrian monk in the middle of 19th century who experimented with
peas. This branch of genetics is also called Classical Genetics or Mendelian Genetics
2. MOLECULAR GENETICS
-the study of the activities of genes, the molecules that carry genetic information from generation to
generation.
-Instead of examining phenotypes (observable traits), they study the genes, the basic unit of heredity.
3. POPULATION GENETICS
- study of the variation of genes within and between populations.
-aimed at understanding how the observed genetic variation evolved.
-describes the genetic differences between species and learning about the process of species formation

WHY STUDY GENETICS?

 production of better crops by adding genes emission and preserve other areas from further
for desirable traits. exploitation for agriculture.
 Bt corn- a corn engineered to contain the  Important changes in medicine such as the
genes of a bacteria, Bacillus thuringensis to human genome mapping for understanding
produce corn that is resistant to stem borer. genetic diseases and the therapy and cure that
Reducing the volume of pesticides that are could be devised for these diseases such as
introduced into the environment, substantially. gene therapy which is in its experimental stage.
 Production of hybrid rice which doubles the  Genetic engineering technologies that
yield of paddy in order to increase the yield of produce cheaper medicines.
rice per unit area and reduce methane gas  Manipulation of genes to produce better
breeding and growing animals.

WHAT ARE GENES?

 genes are units of heredity
 Most are made of double-stranded DNA arranged in a double helix. One strand is the complement of
the other, which means that faithful gene replication requires only that the two strands separate and
acquire complementary partners. The linear sequence of bases in a typical gene carries information for
making a protein. Changes (mutation) in this sequence can cause corresponding changes in the protein
product.
 The double helix structure explains how genes are engaged in three main activities: replication,
carrying information and collecting mutations.
 The complementary nature of the two DNA strands in a gene allows them to replicate faithfully by
separating and serving as templates for the assembly of two new complimentary strands.
 The sequence of the nucleotides in a typical gene is a genetic code that carries the information for
making an RNA. Most of these are messenger RNA’s that carry the information to protein synthesizing
ribosomes. The end result is a new protein chain according to the gene’s instructions.
The instructions for making protein are written in a genetic code that gives the sequence of bases in a
DNA strand (A with T and G with C).
First the enzyme makes a copy of one of the DNA strands. This copy is not DNA but RNA
 messenger RNA carries the instructions to the ribosomes which “read” the code and put together a
protein according to its instruction.
 three bases constitute a code word called the CODON that stands for one amino acid. Out of the 64
possible three-base codons, 61 stands for amino acids and the other 3 are stop signals.
 Ribosomes scan a messenger RNA three bases at a time and bring in the corresponding amino acids to
link to the growing protein chain. When they reach a stop signal, they release a completed protein.
 Genes can exist in several different forms called alleles. A recessive allele can be masked by a
dominant allele in a heterozygote but it does not disappear. It can be expressed again a homozygote
bearing two recessive alleles.
ex. trait: tall . the genes for tallness is expressed in capital letters for dominant allele and small letters for
a recessive allele.
TT- tall individual which is homozygous for allelic pair TT for tallness. T is dominant for tallness. When
two dominant alleles pair, the observed characteristic for height is tall. The individual is homozygous for
the dominant genes TT.
Tt- this individual is tall (observed characteristics for height) because the T allele which is dominant
masks the effect of t which is recessive and represents the dwarf allele. This individual is heterozygous
because it bears the allele for tallness and also bears the allele for dwarfism. Although the individual is
tall, its dwarf character does not disappear.
tt-this individual is dwarf because it contains the allelic pair for dwarfism and is being expressed because
there is no dominant allele to mask the recessive allele. This individual is homozygous for dwarfness.

CHROMOSOME THEORY OF INHERITANCE- chromosome carry genes. Genes are arranged in a linear
fashion on the chromosomes. The reason that certain traits tend to be inherited together is that the
genes governing these traits are on the same chromosomes. However, recombination between two
chromosomes during meiosis can scramble the parental alleles to give nonparental combinations. The
farther apart the two genes are in the chromosomes the more likely such combination between them
will be.

Gametes or sex cells carry only one of the two alleles in a pair and not two and if chromosomes carry the
genes, their numbers will be reduced by half in the gametes.

THOMAS HUNT MORGAN provided the evidence of the chromosomal theory in his experiments with the
fruit fly Drosophila melanogaster.

He mated red -eye males which are dominant with white-eyed flies which are recessive most but not all
F1 offspring with the red-eyed sisters , they produced ¼ white-eyed males but no white-eyed females.
The eye color phenotype was sex-linked and transmitted along with sex in these experiments

Sex and eye color are transmitted together because the genes governing these characteristics are
located in the same chromosome- the X chromosome. Most chromosomes called autosomes occur in
pairs in the given individual but the X chromosome is an example of of sex chromosome, of which the
female flies have two copies and the male has one.

The gene has its place in the chromosome called LOCUS.

DIPLOID ORGANISMS such as the human beings contain two copies of all chromosomes except the sex
chromosomes. This means that they have two copies of most genes and that these copies can be the
same alleles in which case the individual is homozygous or different alleles in which case the organism is
heterozygous.

Genes on the same chromosome do not always show perfect linkage. Morgan found out that although
white eye (white) and miniature (genes for miniature wings) are both in the X chromosome, they
remained linked in the offspring only 65.5 percent of the time. The other offspring have a new
combination of alleles not seen in parents and are called RECOMBINANTS.

Topic II. THE CHROMOSOMAL BASIC OF HEREDITY THE CELL

The CELL (from Latin cella, meaning "small room") is the basic structural, functional, and biological unit
of all known living organisms. A cell is the smallest unit of life that can replicate independently, and cells
are often called the "building blocks of life". The study of cells is called CELL BIOLOGY.

The smallest structure in the universe capable of growth and reproduction. The basic unit of every living
organism and an autonomous living system capable of independent existence and propagation. Thus, it
is a fundamental morphological unit of human, plants and animals body.

Cells consist of cytoplasm enclosed within a membrane , which contains many biomolecules such as
proteins and nucleic acids. Organisms can be classified as unicellular (consisting of a single cell; including
bacteria) or multicellular (including plants andanimals). While the number of cells in plants and animals
varies from species to species, humans contain more than 10 trillion (10^13 ) cells. Most plant and
animal cells are visible only under a microscope, with dimensions between 1 and 100 micrometres.

The cell was discovered by ROBERT HOOKE in 1665, who named the biological unit for its resemblance
to cells inhabited by Christian monks in a monastery.

CELL THEORY
- first developed in 1839 by MATTHIAS JAKOB SCHLEIDEN and THEODOR SCHWANN
states that all organisms are composed of one or more cells,
that cells are the basic unit of life in all living organisms,
that all cells come from preexisting cells,
and that all cells contain the hereditary information necessary for regulating cell functions and for
transmitting information to the next generation of cells. Cells emerged on Earth at least 3.5 billion years
Conclusion and Interpretation:
Both animal and plant cells have structures that are good for doing the jobs required of them —plant
cells, for example, have strong cell walls so that they can be stacked like bricks so that their leaves can
get high enough to get sunlight (necessary to produce energy so that plants can grow), while animals
need to move around and get food, so animal cells are less rigid and produce flexible structures that act
together to produce movement.

THE CHROMOSOME STRUCTURE

CHROMOSOMES are thread-like structures located inside the nucleus of animal and plant cells. Each
chromosome is made of protein and a single molecule of deoxyribonucleic acid (DNA). Passed from
parents to offspring, DNA contains the specific instructions that make each type of living creature
unique.
The term chromosome comes from the Greek words for color (chroma) and body (soma). Scientists gave
this name to chromosomes because they are cell structures, or bodies, that are strongly stained by some
colorful dyes used in research.

WHAT DO CHROMOSOMES DO?

The unique structure of chromosomes keeps DNA tightly wrapped around spool-like proteins, called
histones. Without such packaging, DNA molecules would be too long to fit inside cells. For example, if all
of the DNA molecules in a single human cell were unwound from their histones and placed end-to-end,
they would stretch 6 feet.

For an organism to grow and function properly, cells must constantly divide to produce new cells to
replace old, worn-out cells. During cell division, it is essential that DNA remains intact and evenly
distributed among cells. Chromosomes are a key part of the process that ensures DNA is accurately
copied and distributed in the vast majority of cell divisions. Still, mistakes do occur on rare occasions.
Changes in the number or structure of chromosomes in new cells may lead to serious problems. For
example, in humans, one type of leukemia and some other cancers are caused by defective
chromosomes made up of joined pieces of broken chromosomes. It is also crucial that reproductive
cells, such as eggs and sperm, contain the right number of chromosomes and that those chromosomes
have the correct structure. If not, the resulting offspring may fail to develop properly. For example,
people with Down syndrome have three copies of chromosome 21, instead of the two copies found in
other people.

DO ALL LIVING THINGS HAVE THE SAME TYPES OF CHROMOSOMES?

Chromosomes vary in number and shape among living things. Most bacteria have one or two circular
chromosomes. Humans, along with other animals and plants, have linear chromosomes that are
arranged in pairs within the nucleus of the cell.

The only human cells that do not contain pairs of chromosomes are reproductive cells, or gametes,
which carry just one copy of each chromosome. When two reproductive cells unite, they become a
single cell that contains two copies of each chromosome. This cell then divides and its successors divide
numerous times, eventually producing a mature individual with a full set of paired chromosomes in
virtually all of its cells.

Besides the linear chromosomes found in the nucleus, the cells of humans and other complex organisms
carry a much smaller type of chromosome similar to those seen in bacteria. This circular chromosome is
found in mitochondria, which are structures located outside the nucleus that serve as the cell's
powerhouses.
Scientists think that, in the past, mitochondria were free-living bacteria with the ability to convert
oxygen into energy. When these bacteria invaded cells lacking the power to tap into oxygen's power, the
cells retained them, and, over time, the bacteria evolved into modern- day mitochondria.

WHAT ARE CENTROMERES?

The constricted region of linear chromosomes is known as the centromere. Although this constriction is
called the centromere, it usually is not located exactly in the center of the chromosome and, in some
cases, is located almost at the chromosome's end. The regions on either side of the centromere are
referred to as the CHROMOSOME'S ARMS.
Centromeres help to keep chromosomes properly aligned during the complex process of cell division. As
chromosomes are copied in preparation for production of a new cell, the centromere serves as an
attachment site for the two halves of each replicated chromosome, known as SISTER CHROMATIDS.

WHAT ARE TELOMERES?

Telomeres are repetitive stretches of DNA located at the ends of linear chromosomes. They protect the
ends of chromosomes in a manner similar to the way the tips of shoelaces keep them from unraveling.

In many types of cells, telomeres lose a bit of their DNA every time a cell divides. Eventually, when all of
the telomere DNA is gone, the cell cannot replicate and dies. White blood cells and other cell types with
the capacity to divide very frequently have a special enzyme that prevents their chromosomes from
losing their telomeres. Because they retain their telomeres, such cells generally live longer than other
cells. Telomeres also play a role in cancer. The chromosomes of malignant cells usually do not lose their
telomeres, helping to fuel the uncontrolled growth that makes cancer so devastating.

HOW MANY CHROMOSOMES DO HUMANS HAVE?

Humans have 23 pairs of chromosomes, for a total of 46 chromosomes. In fact, each species of plants
and animals has a set number of chromosomes. A fruit fly, for example, has four pairs of chromosomes,
while a rice plant has 12 and a dog, 39.

HOW ARE CHROMOSOMES INHERITED?

In humans and most other complex organisms, one copy of each chromosome is inherited from the
female parent and the other from the male parent. This explains why children inherit some of their traits
from their mother and others from their father.
The pattern of inheritance is different for the small circular chromosome found in mitochondria. Only
egg cells - and not sperm cells - keep their mitochondria during fertilization. So, mitochondrial DNA is
always inherited from the female parent. In humans, a few conditions, including some forms of hearing
impairment and diabetes, have been associated with DNA found in the mitochondria.

DO MALES HAVE DIFFERENT CHROMOSOMES THAN FEMALES?

Yes, they differ in a pair of chromosomes known as the sex chromosomes. Females have two X
chromosomes in their cells, while males have one X and one Y chromosome. Inheriting too many or not
enough copies of sex chromosomes can lead to serious problems. For example, females who have extra
copies of the X chromosome are usually taller than average and some have mental retardation. Males
with more than one X chromosome have Klinefelter syndrome, which is a condition characterized by tall
stature and, often, impaired fertility. Another syndrome caused by imbalance in the number of sex
chromosomes is Turner syndrome. Women with Turner have one X chromosome only. They are very
short, usually do not undergo puberty and some may have kidney or heart problems.

HOW WERE CHROMOSOMES DISCOVERED?

Scientists looking at cells under the microscope first observed chromosomes in the late 1800s. However,
at the time, the nature and function of these cell structures were unclear. Researchers gained a much
better understanding of chromosomes in the early 1900s through Thomas Hunt Morgan's pioneering
studies. Morgan made the link between chromosomes and inherited traits by demonstrating that the X
chromosome is related to gender and eye color in fruit flies.

THE CELL CYCLE

MITOSIS is an asexual division that produces daughter cells that are exact copies of the parent cell.
Mitosis is a part of the cell cycle or life cycle of the cell. For cells that divide by mitosis, the cell cycle
includes three steps:
 interphase- when DNA replicates;
 mitosis- when the copied chromosomes move into the daughter nuclei;
 and cytokinesis- when the cytoplasm of the parent cell splits.

MEIOSIS is a form of cell division that occurs only in specialized cells within the gonads or sex organs. In
humans, and in most animals, the male gonads are the testes, and the female gonads are the ovaries.

CELL CYCLE- growth-division cycle of living cells in which daughter cells are produced through nuclear
division (mitosis) and cellular division called cytokinesis

INTERPHASE- the growth stage of the cell.

G1- after mitosis and the period of growth and metabolic activity
S- after G1 and is a period of DNA synthesis in which the DNA is replicated.
G2- after DNA synthesis and precedes the next mitotic division

THE CELL CYCLE

Actively dividing eukaryote cells pass through a series of stages known collectively as the cell cycle:
two gap phases (G1 and G2); an S (for synthesis) phase, in which the genetic material is duplicated; and
an M phase, in which mitosis partitions the genetic material and the cell divides.

G1 PHASE. Metabolic changes prepare the cell for division. At a certain point - the restriction point - the
cell is committed to division and moves into the S phase.
S PHASE. DNA synthesis replicates the genetic material. Each chromosome now consists of two sister
chromatids.
G2 PHASE. Metabolic changes assemble the cytoplasmic materials necessary for mitosis and cytokinesis.
M PHASE. A nuclear division (mitosis) followed by a cell division (cytokinesis). The period between
mitotic divisions - that is, G1, S and G2 - is known as INTERPHASE.
MITOSIS
Mitosis is a form of eukaryotic cell division that produces two daughter cells with the same genetic
component as the parent cell. Chromosomes replicated during the S phase are divided in such a way as
to ensure that each daughter cell receives a copy of every chromosome. In actively dividing animal cells,
the whole process takes about one hour.
The replicated chromosomes are attached to a 'mitotic apparatus' that aligns them and then separates
the sister chromatids to produce an even partitioning of the genetic material. This separation of the
genetic material in a mitotic nuclear division (or KARYOKINESIS) is followed by a separation of the cell
cytoplasm in a cellular division (or CYTOKINESIS) to produce two daughter cells.

In some single-celled organisms mitosis forms the basis of asexual reproduction. In diploid multicellular
organisms sexual reproduction involves the fusion of two haploid gametes to produce a diploid zygote.
Mitotic divisions of the zygote and daughter cells are then responsible for the subsequent growth and
development of the organism. In the adult organism, mitosis plays a role in cell replacement, wound
healing and tumour formation. Mitosis, although a continuous process, is conventionally divided into
five stages: prophase, prometaphase, metaphase, anaphase and telophase.

PROPHASE
Prophase occupies over half of mitosis.
- The nuclear membrane breaks down to form a number of small vesicles and the nucleolus
disintegrates.
- A structure known as the centrosome duplicates itself to form two daughter centrosomes that migrate
to opposite ends of the cell. The centrosomes organize the production of microtubules that form the
spindle fibres that constitute the mitotic spindle.
The chromosomes condense into compact structures. Each replicated chromosome can now be seen to
consist of two identical chromatids (or sister chromatids) held together by a structure known as the
centromere.

PROMETAPHASE
- The chromosomes, led by their centromeres, migrate to the equatorial plane in the midline of cell - at
right-angles to the axis formed by the centrosomes.
This region of the mitotic spindle is known as the METAPHASE PLATE. The spindle fibres bind to a
structure associated with the centromere of each chromosome called a KINETOCHORE. Individual
spindle fibres bind to a kinetochore structure on each side of the centromere. The chromosomes
continue to condense.

METAPHASE
- the chromosomes align themselves along the metaphase plate of the spindle apparatus.

ANAPHASE
The shortest stage of mitosis. The centromeres divide, and the sister chromatids of each chromosome
are pulled apart - or 'disjoin' - and move to the opposite ends of the cell, pulled by spindle fibres
attached to the kinetochore regions. The separated sister chromatids are now referred to as DAUGHTER
CHROMOSOMES. (It is the alignment and separation in metaphase and anaphase that is important in
ensuring that each daughter cell receives a copy of every chromosome.)

TELOPHASE
The final stage of mitosis, and a reversal of many of the processes observed during prophase. The
nuclear membrane reforms around the chromosomes grouped at either pole of the cell, the
chromosomes uncoil and become diffuse, and the spindle fibres disappear.
CYTOKINESIS
The final cellular division to form two new cells. In plants a cell plate forms along the line of the
metaphase plate; in animals there is a constriction of the cytoplasm. The cell then enters interphase -
the interval between mitotic divisions.

Meiosis
Two successive nuclear divisions occur, Meiosis I (Reduction) and Meiosis II (Division). Meiosis produces
4 haploid cells. Mitosis produces 2 diploid cells. The old name for meiosis was reduction/ division.
Meiosis I reduces the ploidy level from 2n to n (reduction) while Meiosis II divides the remaining set of
chromosomes in a mitosis-like process (division). Most of the differences between the processes occur
during Meiosis I. Prophase 1 : Meiosis is the division of germ cell.The term meiosis was introduced by
J.B.Farmer .and J.E.Moore.Meiosis are grouped into two-Meiosis 1 and Meiosis II.Meiosis I is again
divided into Prophase, Metaphase 1, anaphase 1 and Telophase 1. In Meiosis 1 ,the reduction in the
chromosome number takes place.So Meiosis 1 is called reduction division.During Prophase 1 of
Meiosis ,there is an increase in the volume of the nucleus.Prophase 1of meiosis 1 is divided into five
stages based on the chromosomal behaviour.