HEREDITY – INHERITANCE AND VARIATION

The American Geneticists George Beadle and Edward Tatum established the connection
between genes and enzyme.
The experiments of Beadle and Tatum linked genes to actual product of cells and showed the
importance of genes to cellular activity. In other words, a gene is a portion of DNA that contains
the instruction for the synthesis RNA or protein.
Organisms have blueprints which contain information that will determine the physical and
chemical characteristics. This blueprint is DNA (deoxyribonucleic Acid).
Components of a DNA Molecule
The DNA molecule is composed of three types of component molecule: phosphate group, the
sugar deoxyribose, and the bases adenine, thymine, cytosine, guanine (A, T, C, G).
Nucleotides
There are three molecules that form the basic building block of DNA, the nucleotides. Each
nucleotide is composed of one phosphate group, one sugar molecule, and one of the four bases -
in the example.
Across the strands of the helix, A always pairs with T, G with C. Ribonucleic Acid, like DNA, is
a nucleic acid. However, RNA structure differs from DNA structure in three ways.
Differences between DNA and RNA
DNA RNA Pyrim
Strand double single idine
Sugar deoxyribose ribose bases
Location nucleus nucleus and cytoplasm –
Nitrogenous bases A, G, C and T- thymine A, G, C and U- uracil thymi
ne
and cytosine Purine Bases – adenine and guanine
The major types of RNA include: messenger RNA (mRNA), ribosomal RNA (rRNA), and transfer
RNA (tRNA).
REPLICATION
In 1953, James Watson and Francis Crick worked out that DNA is double helix like a twisted
staircase. The two sugar-phosphate backbones make up the sides and the base pairs make up the
rungs or steps of the twisted staircase.
Deoxyribonucleic acid is copied during interphase prior to mitosis and meiosis.
It is important that new copies are exactly like the original molecule. The structure of the DNA
provides a mechanism for making accurate copies of the molecule.
The process of making copies of DNA is called replication. When DNA replicates, Two identical
copies of DNA molecules are produced, which are exactly the same as the original.
TRANSCRIPTION
Transcription is the first of several steps of DNA based gene expression (gene is a short part of
DNA that encodes for a protein), in which a particular segment of DNA is copied into RNA
(especially mRNA) by the enzyme RNA polymerase.
Both DNA and RNA are nucleic acids, which use base pairs of nucleotides as a complementary
language. During transcription, a DNA sequence is read by an RNA polymerase, which produces a
complementary, antiparallel RNA strand called a primary transcript.
TRANSLATION
The DNA directs the production of proteins and determines the formation of mRNA. The order of
bases of mRNA determines the protein synthesized.
Proteins control the activities of the cell, as well as so the life of the entire organism. In
translation, each set of three nucleotides in an mRNA molecule codes for one amino acid in a
protein. This explains why each of three nucleotides in the mRNA is called a codon. Each codon
specifies a particular amino acid.
The process of converting the information in messenger RNA into a sequence of amino acids that
make a protein is known as translation.
The role of transfer RNA (tRNA) is to bring the amino acids in the cytoplasm to the ribosomes to
make proteins.
MUTATION
Any change in the sequence of nitrogenous bases in the DNA, any mistake in the transcription of
genetic information from DNA to RNA or pairing of the codon and anticodon, may cause changes
in the kind, sequence and number of amino acids of proteins synthesized by cells. Mutation may
be induced by factors called mutagens.
Mutagens are commonly in the form of toxic chemicals and harmful radiations. Sometimes,
mistakes occur in DNA replication, mitosis, and meiosis. All of these can alter the DNA sequence
and length. Mutation occurring in two types of cells.
Reproductive cells - mutations in sex cells pass on to offspring mutations affect the reproductive
cells of an organism by changing the sequence of nucleotides within a gene in a sperm or an egg
cell if these cells are fertilized, then the mutated gene becomes a part of the genetic make up of
the offspring
2 types of Mutations in Gamete cells
Gene mutation - permanent change in the DNA sequence that makes up a gene
Chromosomal mutation - occurs at the chromosomal level resulting in gene deletion, duplication
or rearrangement that may occur during the cell cycle and meiosis.
It may be caused by parts of chromosomes breaking off or rejoining incorrectly.
Mutations in body cells are known to cause cancer while mutation in sex cells can cause birth
defects.
A severe mutation may lead to cell death and may have no effect on the body.
Changes that affect the structure of chromosomes can cause problems with growth,
development, and function of the body's systems.
These changes can affect many genes along the chromosome and disrupt the proteins made
from these genes.
Cri du chat - Caused by the deletion of part of the short arm of chromosome 5.
It is named cri du chat because affected babies make high-pitched cries that sound like a cat.
Affected individuals have wide-set eyes, a small head and jaw, are moderately to severely
mentally retarded, and very short
Down Syndrome - Caused by an extra copy of chromosome 21 (trisomy 21).
Characteristics include decreased muscle tone, stockier build, asymmetrical skull, slanting eyes
and mild to moderate mental retardation.
Edward's syndrome - Second most common trisomy after Down syndrome. A trisomy of
chromosome 18.
Symptoms include mental and congenital anomalies causing serious health problems 99% death
in infancy
Jacobsen syndrome - Also called terminal 11q deletion disorder.
Those affected have normal intelligence or mild mental retardation, with poor or excessive
language skills.
Most have a bleeding disorder called Paris-Trousseau syndrome.
Klinefelter's syndrome (XXY)
Men with this condition are usually sterile and tend to have longer arms and legs and to be taller
than their peers. They are often shy and quiet and have higher incidence of speech delay.
Turner's syndrome (X instead of XX or XY)
Female sexual characteristics are present but undeveloped.
They often have a short stature, low hairline, abnormal eye features and bone development and
a “caved-in” appearance to the chest.
HUMAN KARYOTYPING
Process by which cytogeneticists take photographs of chromosomes in order to determine the
chromosome complement of an individual, including the number of chromosomes and any
abnormalies.
The term is also used for the complete set of chromosomes in a species or in an individual
organism and for a test that detects this complement or measures the number.
Genetic Engineering
A modern biotechnology which produces transgenic or GM crops of organisms.
When DNA from two different species are joined together, it is called recombinant DNA.
This process uses restriction enzymes to cleave one organism's DNA into fragments and other
enzymes to splice the DNA fragment into a plasmid or viral DNA.