GENETICS

Genetics is the branch of science concerned with heredity, the expression of

traits and how they are passed from generation to generation. It basically helps us
understand the biological programming behind all life-forms. Genetics forms one of
the central pillars of biology and overlaps with many other areas, such as
agriculture, medicine, and biotechnology.

The fundamental units responsible for heredity are the genes. Modern
genetics focuses on the chemical substance that genes are made of, called
deoxyribonucleic acid, or DNA, and the ways in which it affects the chemical
reactions that constitute the living processes within the cell.

For thousands of years, humans have observed this inheritance of traits and
implemented their knowledge to breed and domesticate plants and animals.
However, the science behind inheritance was only starting to be understood in the
mid 19th century. Around 1865, Austrian monk and botanist Gregor Mendel
published the results of his hybridization studies of pea plants. Mendel combined a
purebred yellow-seeded plant with a purebred green-seeded plant, and he got only
yellow seeds. He called the yellow-colored trait dominant one, because it was
expressed in all the new seeds. Then he let the new yellow-seeded hybrid plants
self-fertilize, and in this second generation he got both yellow and green seeds,
which meant that the green trait had been hidden by the dominant yellow. He
called this hidden trait the recessive trait. From those results, Mendel inferred that
each trait depends on a pair of factors, one of them coming from the mother, and
the other from the father. These factors are called alleles and represent the
different variations of a gene. Depending on which type of allele Mendel found in
each seed, we can have what we call a homozygous pea, where both alleles are
identical, and what we call a heterozygous pea, when the two alleles are different.
This combination of alleles is known as genotype, and its result, being yellow or
green, is called phenotype.

To clearly visualize how alleles are distributed amongst descendants, a

diagram called the Punnett square can be used: the different alleles are placed on
both axes and then figuring out the possible combinations is next. In Mendel’s first
generation, the yellow homozygous pea mom will give each pea kid a yellow-
dominant allele, and the green homozygous pea dad will give a green-recessive
allele; so all the pea kids will be yellow heterozygous. Then, in the second
generation, where the two heterozygous kids marry, their babies could have any of
the three possible genotypes, showing the two possible phenotypes in a three-to-
one proportion.

Each human has between 20,000 and 25,000 genes: this collection called a
genome determines a person’s traits by influencing factors on a cellular level.
Genetic information is stored in every cell’s nucleus. Structures called chromosomes
carry this information in the form of deoxyribonucleic acid or DNA. DNA is a double
helix of nucleotides, chemical compounds composed of sugar and phosphate
molecules, along with the bases by mean adenine, guanine, cytosine and thymine.
These segments of DNA are what we call GENES, and it is within those genes that
chemical compounds provide the coding for all information about a person’s
inherited traits. Human cells contain so much DNA to carry this large amount of
information that if unraveled, the DNA in each cell would be over 6 feet long.

IMPORTANT STUDIES/PROJECTS ON GENETICS

HUMAN GENOME PROJECT

- an international collaboration that successfully determined, stored, and

rendered publicly available the sequences of almost all the genetic content of
the chromosomes of the human organism, otherwise known as the human
genome.

The Human Genome Project (HGP), which operated from 1990 to 2003,
provided researchers with basic information about the sequences of the three
billion chemical base pairs that make up human genomic DNA. The HGP was
further intended to improve the technologies needed to interpret and analyze
genomic sequences, to identify all the genes encoded in human DNA, and to
address the ethical, legal, and social implications that might arise from
defining the entire human genomic sequence.

INTERNATIONAL HapMap PROJECT

- an international collaboration aimed at the identification of genetic

variations contributing to human disease through the development of
a haplotype (haploid genotype) map of the human genome. A haplotype is a
set of alleles (differing forms of genes) that occur close together on a
single chromosome and tend to be inherited together. By identifying
haplotypes and mapping their chromosomal locations, scientists are able to
associate genetic variants with specific diseases and disorders.

1000 GENOMES PROJECT

- an international collaboration in which researchers aimed to sequence

the genomes of a large number of people from different ethnic groups
worldwide with the intent of creating a catalog of genetic variations occurring
with a frequency of at least 1 percent across all human populations. The data
gathered from the 1000 Genomes Project was expected to inform research in
a wide range of fields, including medicine, human genetics, and human
evolution.
GENETICS

Genetics is the branch of science concerned with genes, heredity, and variation in
living organisms. Genetics forms one of the central pillars of biology and overlaps
with many other areas, such as agriculture, medicine, and biotechnology.

Genetics arose out of the identification of genes, the fundamental units responsible
for heredity. Genetics may be defined as the study of genes at all levels, including
the ways in which they act in the cell and the ways in which they are transmitted
from parents to offspring. Modern genetics focuses on the chemical substance that
genes are made of, called deoxyribonucleic acid, or DNA, and the ways in which it
affects the chemical reactions that constitute the living processes within the cell.
Gene action depends on interaction with the environment.

Genetics as a scientific discipline stemmed from the work of Gregor Mendel in the

middle of the 19th century. Mendel suspected that traits were inherited as discrete
units, and, although he knew nothing of the physical or chemical nature of genes at
the time, his units became the basis for the development of the present
understanding of heredity. All present research in genetics can be traced back to
Mendel’s discovery of the laws governing the inheritance of traits. The
word genetics was introduced in 1905 by English biologist William Bateson, who was
one of the discoverers of Mendel’s work and who became a champion of Mendel’s
principles of inheritance.

HISTORY

Hippocrates (c. 460–c. 375 BCE), known as the father of medicine, believed in the

inheritance of acquired characteristics, and, to account for this, he devised
the hypothesis known as pangenesis. He postulated that all organs of the body of a
parent gave off invisible “seeds,” which were like miniaturized building components
and were transmitted during sexual intercourse, reassembling themselves in the
mother’s womb to form a baby.

Aristotle (384–322 BCE) emphasized the importance of blood in heredity. He

thought that the blood supplied generative material for building all parts of the
adult body, and he reasoned that blood was the basis for passing on this generative
power to the next generation. In fact, he believed that the male’s semen was
purified blood and that a woman’s menstrual blood was her equivalent of semen.
These male and female contributions united in the womb to produce a baby. The
blood contained some type of hereditary essences, but he believed that the baby
would develop under the influence of these essences, rather than being built from
the essences themselves.

Aristotle’s ideas about the role of blood in procreation were probably the origin of
the still prevalent notion that somehow the blood is involved in heredity. Today
people still speak of certain traits as being “in the blood” and of “blood lines” and
“blood ties.” The Greek model of inheritance, in which a teeming multitude of
substances was invoked, differed from that of the Mendelian model. Mendel’s idea
was that distinct differences between individuals are determined by differences in
single yet powerful hereditary factors. These single hereditary factors were
identified as genes. Copies of genes are transmitted through sperm and egg and
guide the development of the offspring. Genes are also responsible for reproducing
the distinct features of both parents that are visible in their children.

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Genetics helps us understand the biological programming behind all life-forms.
Genetics is the study of heredity, the expression of traits and how they are passed
from generation to generation. For thousands of years, humans have observed this
inheritance of traits and implemented their knowledge to breed and domesticate
plants and animals. However, the science behind inheritance was only starting to be
understood in the mid 19 th century. Around 1865, Austrian monk and botanist
Gregor Mendel published the results of his hybridization studies of pea plants. In his
findings he noted the role of factors that influence the expression of traits; these
factors later became known as genes. Each human has between 20,000 and 25,000
genes: this collection called a genome determines a person’s traits by influencing
factors on a cellular level. Genetic information is stored in every cell’s nucleus.
Structures called chromosomes carry this information in the form of
deoxyribonucleic acid or DNA. DNA is a double helix of nucleotides, chemical
compounds composed of sugar and phosphate molecules, along with the bases by
mean adenine, guanine and cytosine. These segments of DNA are what we call
GENES, and it is within those genes that chemical compounds provide the coding for
all information about a person’s inherited traits. Human cells contain so much DNA
to carry this large amount of information that if unraveled, the DNA in each cell
would be over 6 feet long. At the turn of the 21 st century, an international effort to
decode human DNA was launched called the HUMAN GENOME PROJECT which
ended up identifying about 99% of the entire human genetic sequence. “A
revolution in medical science whose implications far surpass even the discovery of
antibiotics”. Discoveries in genetics have unearthed tremendous opportunities in
medicine such as genetic testing in the manipulation of genes, but with these
opportunities come risks and ethical questions. Finding the answer to those
questions may be the next stage of our understanding of genetics.

-----------------------------

Mendel combined a purebred yellow-seeded plant with a purebred green-seeded

plant, and he got only yellow seeds. He called the yellow-colored trait dominant
one, because it was expressed in all the new seeds. Then he let the new yellow-
seeded hybrid plants self-fertilize, and in this second generation he got both yellow
and green seeds, which meant that the green trait had been hidden by the
dominant yellow. He called this hidden trait the recessive trait. From those results,
Mendel inferred that each trait depends on a pair of factors, one of them coming
from the mother, and the other from the father. These factors are called alleles and
represent the different variations of a gene. Depending on which type of allele
Mendel found in each seed, we can have what we call a homozygous pea, where
both alleles are identical, and what we call a heterozygous pea, when the two
alleles are different. This combination of alleles is known as genotype, and its result,
being yellow or green, is called phenotype. To clearly visualize how alleles are
distributed amongst descendants, we can use a diagram called the Punnett square:
you place the different alleles on both axes and then figure out the possible
combinations. In Mendel’s first generation, the yellow homozygous pea mom will
give each pea kid a yellow-dominant allele, and the green homozygous pea dad will
give a green-recessive allele; so all the pea kids will be yellow heterozygous. Then,
in the second generation, where the two heterozygous kids marry, their babies
could have any of the three possible genotypes, showing the two possible
phenotypes in a three-to-one proportion.

------

Along the segments of our DNA, genes are neatly packaged within structures
called chromosomes. Every human cell contains 46 chromosomes, arranged as 23
pairs (called autosomes), with one member of each pair inherited from each parent
at the time of conception. After conception (when a sperm cell and an egg come
together to make a baby), the chromosomes duplicate again and again to pass on
the same genetic information to each new cell in the developing child. Twenty-two
autosomes are the same in males and females. In addition, females have two X
chromosomes and males have one X and one Y chromosome. The X and the Y are
known as sex chromosomes.

Human chromosomes are large enough to be seen with a high-powered microscope,

and the 23 pairs can be identified according to differences in their size, shape, and
the way they pick up special laboratory dyes.

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