Section 2 Heredity and Evolution

B. Molecular Genetics

I. RNA & DNA Structures & Functions

* Both: Polymers of nucleotide monomer consists of three parts: a nitrogen base, a sugar, and a
phosphate

Difference:
DNA:
(function) contains hereditary information (genes) of the cell
(structure) double helix
(nucleotide components) sugar – deoxyribose, nitrogen base – adenine,
thymine, guanine, cytosine

RNA
(function) 1. mRNA – provides the instructions for assembling amino
acids into a polypeptide chain
2. tRNA – delivers amino acids to a ribosome for their addition
into a growing polypeptide chain
3. rRNA – combines with proteins to form ribosomes

(structure) 1. linear 2. “clover-leaf” shaped 3. globular

(nucleotide components) sugar – ribose, nitrogen bases – adenine, uracil,

guanine, cytosine
• The structure of the nucleic acids (specific pairing) creates a double helix which holds
genetics materials and allows the copying mechanism for the genetic material.
• Prokaryotic and Eukaryotic – contain DNA and cell membranes

Prokaryotic: * smaller than eukaryotic (70s with 50s and 30s subunits)
* usually only contain a plasma membrane, a DNA molecule,
ribosome, cytoplasm, and often a cell way.
* Bacteria, cynanobacteria, and archaebacteria
* Nucleus
* No nuclear membrane
* tons of single cell
* asexual

Eukaryotic: * bigger than prokaryotic (80s with 60s and 40s subunits)
* include all organisms except for bacteria, cyanobacteria, and ]
Archacbacteria
* Nucleus
* Nuclear membrane
* diversity less than prokaryotic
* Sexual
* Ex. Humans, dogs
II. Mutation
Def. – any sequence of nucleotides in a DNA molecule that does not exactly match the
original DNA molecule from which it was copied.

Point Mutation – a single nucleotide error and includes the following.

Ways genetic information can be altered:

1. A substitution occurs when the DNA sequence contains an incorrect nucleotide in place of
the correct nucleotide.
2. A deletion occurs when a nucleotide is omitted form the nucleotide sequence.
3. An insertion occurs when a nucleotide is added to the nucleotide sequence.
4. A frameshift mutation occurs as a result of a nucleotide deletions or insertion. Such
mutations cause all subsequent nucleotides to be displaced one position.
If a frameshift mutation occurs in a DNA segment whose transcription produces an mRNA, all
codons following the transcribed mutation will change.

If an mRNA is produced from a DNA segment that contains a point mutation, one of the following
results.
Effects from these alterations:
1. A silent mutation occurs when the new codon still codes for the same amino acid. This
occurs most often when the nucleotide substitution results in a change of the last of the
three nucleotides in a codon.
2. A missense mutation occurs when the new codes for a new amino acid. The effect can be
minor, or it may result in the production of protein that is unable to fold into its proper
three-dimensional shape and, therefore, is unable to carry out its normal function. The
hemoglobin protein that causes sickle-cell disease is caused by a missense mutation.
3. A nonsense mutation occurs when the new codon codes for a stop codon.

Diseases caused by mutations:

1. Down Syndrome (trisomy 21) – When an aneuploid gamete combines with a normal hapoid
gamete during fertilization, the result is an aneupoid zygote. Most of these chromosomal
alterartions are so disastrous to development that the embryos are spontaneously aborted
long before birth. Genetic disorders caused by aneuploid can be diagnosed before birth by
fetal testing. Down syndrome is usually the result of an extra chromosome 21, so that each
body cell has a total of 47 chromosomes.

2. Klinefelter syndrome – Nondisjunctin of sex chromosomes produces a variety of aneuploid

conditions that appear to upset genetic balance involving autosomes. The Y chromosome
carries relatively few genes and the X chromosome becomes inactivated as Garr bodies in
somatic cells.

- An extra X chromosome in a male, producing XXY, occurs approximately once in

every 2,000 live births. People with this disorder have male sex organs, but the testes
are abnormally snall and the man is sterile. Even though the extra X is inactivated,
some breast enlargement and other female body characteristics are common.
 - Males with an extra Y chromosome (XYY) do not exhibit any well-defined
syndrome, but they tend to be somewhat taller than average.

3. Sickle-cell diseases – (a point mutation) The allele that causes sickle-cell disease
differs from the wild-type (normal) allele by a single DNA base pair.

III. Nucleic acid technology and application

• Gene cloning – to make many copies of a particular gene and to produce a protein product.
First, a plasmid is first isolated from a bacterial chromosome and then the foreign DNA is
inserted into it. The resulting plasmid is now a recombinant bacterium, which reproduces to
form a clone of identical cells.

• Genomic Library – Scientists often obtain such libraries (or even particular cloned genes)
from another researcher or a commercial source (sometimes referred to as “cloning by
phone”!).

• Gel Electrophoresis – This technique uses a gel as a molecular sieve to separate nucleic
acids or proteins on the basis of size, electrical charge, and other physical properties. Gel
electrophoreses separates a mixture of linear DNA molecules into bands by length. When
the mixture of restriction fragments from a particular DNA molecule undergoes
electrophoresis, it yields a band pattern characteristic of the staining molecule and the
restriction enzyme used. The procedure is useful for comparing two different DNA
molecules – for ex. two alleles of a gene.

• Possible legal and ethical problems:

o Risks to human health from GM foods- the protein products of transgenes might
lead to allergic reactions.
o If cancer cell genes were transferred into bacteria or viruses
o Should a person’s genome be a factor in suitability for a job or eligibility for
insurance?
o Who should have the fight to examine someone else’s genes? How should that
information be used?