Applied Genetics

Define genetic screening

Testing a population for the presence or absence of a gene

Discuss three advantages and disadvantages of genetic screening

1.      Advantages

a.      Lessen the devastating impact of genetic disease

b.      Identification of persons who have genetically determined susceptibilities to specific

environmental agents

c.      Insurance Companies can give lower premiums

2.      Disadvantage

a.      Can stigmatise and emotionally traumatize those who learn that they are carriers of genetic
defects

b.      Invasion of privacy

c.      Has the potential of being used to dictate who may or may not reproduce

State that the Human Genome project is an international cooperative venture to sequence
the complete human genome

Discuss two possible advantages of this project

·         Understanding of many genetic diseases

·         Genome libraries

·         Production of gene probes to detect sufferers and carriers of genetic diseases

·         Production of pharmaceuticals based on DNA sequences

Define clone

A group of organisms of identical genotype / a group of cells descended from a single parent cell
Outline a technique used in the cloning of farm animals

Early division of a fertilised egg produces 8 cells each of which would give rise to an embryo
(totipotency).

After in vitro fertilisation processes the 8 resultant seprated embryos can be transferred to
surrogate mothers (e.g cattle or sheep) to continue using selected prime animals for the
production of gametes

At present used for genetically manipulated animals to produce pharmaceuticals

Discuss the ethical issues of cloning human embryos

Happens naturally in monozygotic twins

In vitro fertilisation of twins unacceptable?

Selection of those fit to be cloned

Eugenics and super-race?

Discuss the results of crop plant and animal breeding

Breeding for disease resistance

Increased food production

Higher yields of milk/wool/protein

Breeding plants that can spread

Chromosomes, genes and alleles

What is a eukaryote chromosone made from?

DNA and protein

State that chromosomes can be stained to show banding

State that chromosone structure and banding can be used to arrange the chromosomes in
their pairs

Describe one application of karyotyping

Karyotyping can be used not only to diagnose aneuploidy, which is responsible for Down,
Turner's, and Klinefelter's syndromes, but also to identify the chromosomal aberrations
associated with solid tumours such as Wilms' tumour, meningioma, neuroblastoma,
retinoblastoma, renal-cell carcinoma, small-cell lung cancer, and certain leukemias and
lymphomas.

Define Gene

An heritable factor that controls a specific characteristic, consiting of a length of DNA occupying
a position on a chromosone known as a locus.

Define allele

One specific form of a gene, differing from other alleles by one or a few bases only and
occupying the same gene locus as other alleles of the gene

Define genome

The total genetic material of an organelle, cell or organism

Gene Mutation

Define Gene Mutation

A change in the base sequence of a gene

Outline the difference between an insertion and a deletion

Explain the consequence of a base substitution mutation in relation to the process of

transcription and translation, using the example of sickle cell anaemia
Base substitutions (aka point mutations) occur when 1 base on a DNA strand is replaced with a
different one. This can affect the resulting protein in various ways. Great distortions can arise
because during transcription and translation, the DNA that is being read is wrong, and thus do
not correctly produce a needed protein. An incorrect sequence of amino acids may alter the shape
of the protein, the most important characteristic that defines a protein’s function. In the case of
sickle cell anaemia, the haemoglobin molecule is crystalline and makes the red blood cell
crescent-shaped. Even a slight change in the sequence may be enough to completely alter the
information-

Meiosis

State that meiosis is a reduction division in terms of diploid and haploid numbers of
chromosomes

Outline the process of meiosis including pairing of chromosomes followed by two divisions
which result in four haploid cells

In meiosis, the number of chromosomes is halved, the daughter cells receiving only one of each
type of chromosome instead of two. It occurs in the formation of gametes (sex cells). In the
diploid parent cell, chromosomes occur in homologous pairs (the same size). The parent splits in
two (1stmeiotic division), and the homologous chromosomes of each pair line up together and
then get separated from one another and go into different cells. The products then divide again
(2ndmeiotic division, and the chromatids are separated and a total of 4 daughter cells result

Explain how the movement of chromosomes during meiosis can give rise to genetic variety
in the resulting haploid cells

Chromosones are inherited as a group; that is, during cell division they act and move as a unit
rather than independently. The existence of linkage groups is the reason some traits do not
comply with Mendel's law of independent assortment (recombination of genes and the traits they
control); i.e., the principle applies only if genes are located on different chromosomes. Variation
in the gene composition of a chromosome can occur when a chromosome breaks, and the
sections join with the partner chromosome if it has broken in the same places. This exchange of
genes between chromosomes, called crossing over, usually occurs during meiosis, when the total
number of chromosomes is halved.

Explain that non-disjunction can lead to changes in chromosone number, illustrated by

reference to down’s syndrome

Congenital disorder caused by an extra chromosome on the chromosome 21 pair, thus giving the
person a total of 47 chromosomes rather than the normal 46. Persons born with Down syndrome
are characterized by several of the following: broad, flat face; short neck; up-slanted eyes,
sometimes with an inner epicanthal fold; low-set ears; small nose and enlarged tongue and lips;
sloping underchin; poor muscle tone; mental retardation; heart or kidney malformations or both;
and abnormal dermal ridge patterns on fingers, palms, and soles. The mental retardation seen in
persons with Down syndrome is usually moderate, though in some it may be mild or severe.
Congenital heart disease is found in about 40 percent of people with Down syndrome.

Most persons with Down syndrome have an extra (third) chromosome--a condition known as
trisomy--associated with the chromosome 21 pair. Almost all individuals with Down syndrome
have this trisomy, but a small number (perhaps 4 percent) have an abnormality called
translocation, in which the extra chromosome in the 21 pair breaks off and attaches itself to
another chromosome. The cause of the chromosomal abnormalities in Down syndrome remains
unknown.

State Mendel’s law of segregation

The characteristics of an organism are determined by internal factors that occur in pairs. Only
one of a pair of such factors can be represented in a single gamete.

Explain the relationship between mendel’s law of segregation and meiosis

Meiosis is the process that separates allele pairs to create the gametes (sex cells; sperm, egg) that
later fuse together during fertilisation.

Theoretical Genetics

Define:

Genotype

The alleles possessed by an organism

Phenotype

All the characteristics of an organism

Dominant allele

An allele which has the same effect on the phenotype whether it is present in the homozygous or
heterozygous state

Recessive allele

An allele which only has an effect on the phenotype when present in homozygous state

Codominant alleelle
Allelees which have a partial effect on the phenotype when present in heterozygotes but a greater
effect in homozygotes

Locus

The particular position on homologous chromosomes of a gene

Homozygous

Having two identical alleles of a gene

Heterozygous

Having two different alleles of a gene

Carrier

An individual that has a recessive allele of a gene that does not have an effect on the phenotype

Test Cross

Testing a suspected heterozygote by crossing with a known homozygous recessive

Punnet Grid

Pedigree Chart

a record of ancestry or purity of breed

State that some genes have more than two alleles

Describe ABO blood groups as an example of co-dominance and multiple alleles

Co-dominant alleles- alleles which have a partial effect on the

phenotype when present in heterozygous state but have a greater effect in

homozygotes.

An example is in the alleles controlling the BO blood group system in humans.

The ABO system is controlled by 3 alleles; I , I and I .

I produces A antigens
I produces B antigens

I produces no antigens

There are 2 such alleles present in each person and therefore 6 combinations,

which are:

II=A

I I = A The I and I alleles show equal dominance

I I = B with respect to one another (i.e. the are

I I = AB co-dominant), but each is dominant to I .

I I = O Inheritance follows normal Mendelian

I I = B patterns.

Outline how the sex chromosomes determine gender by referring to the inheritance of x
and y chromosomes of humans

Xy = male

Xx = female

State that some genes are present on the x chromosome and absent from the shorter y
chromosome

Define sex linkage

Genes carried on sex chromosomes

State two examples of sex linkage

Colour Blindness

Haemophilia

State that a human female can be heterozygous or homozygous, with respect to sex-linked
genes
Explain that female carriers are heterozygous for x-linked alleles

Calculate and predict the genotypic and phenotypic ratios of offspring of monohybrid
crosses involving any of the above patterns of inheritance

Deduce the genotypes or phenotypes of individuals in pedigree charts