HANDOUT IN GENETICS

(MENDELIAN GENETICS AND MENDELIAN MODIFICATIONS)

True-breeding – the offspring were like the parent plants and like each other; self-
pollination.

Monohybrid Testcross – used to determine if an individual with the dominant

phenotype is homozygous dominant or heterozygous for a particular trait.

Ex. P: Tt x tt P: TT x tt

F1: ½ Tt : ½ tt F1: Tt
½ tall : ½ short All tall plants

Dihybrid Testcross – used to determine if an individual is homozygous dominant

or heterozygous for either of two traits.

Pleiotropy – used to describe a gene that affects more than one characteristic of
the individual. It can occur whenever a gene product is required in more than one
tissue or organ.

Ex. Marfan syndrome – individual tends to be tall and thin with long legs, arms,
and fingers; they are near-sighted, and the wall of the aorta is weak, causing it to
enlarge and eventually split.

MENDEL’S POSTULATES

1. Unit Factors in Pairs

Genetic characters are controlled by unit factors that exist in pairs in individual
organisms.

2. Dominance/Recessiveness
When two unlike factors responsible for a single character are present in a single
individual, one unit factor is dominant to the other, which is said to be recessive.

3. Segregation
During the formation of gametes, the paired unit factors separate randomly so
that each gamete receives one or the other.

4. Independent Assortment
During gamete formation, separating pairs of unit factors assort independently
of each other.

Punnett Square – a method of visualizing the genotypes and phenotypes resulting

from the recombination of gametes during fertilization.

Incomplete Dominance
 This may lead to a distortion of the apparent ratios or to the creation of
unexpected classes of offspring. An example is Familial Hypercholesterolemia
(FH); there are three phenotypes: +/+ = normal, +/- = death as young adult, -/- =
death in childhood. The gene responsible codes for the liver receptor for cholesterol.
The number of receptors is directly related to the number of active genes. If the
number of receptors is lowered, the level of cholesterol in the blood is elevated and
the risk of coronary artery disease is raised.

Epistasis

Ex. The Bombay phenotype in humans is caused by an absence of the H antigen,

so that the ABO phenotype will be O no matter what the ABO genotype.

Genetic Heterogeneity

This is the term used to describe a condition which may be caused by mutations
in more than one gene. An example is Tuberous sclerosis, an autosomal
dominant condition affecting about 1 in 6,000 people in the UK, the disease is
produced by mutations in either of two unrelated genes, TSC1 on chromosome 9 or
TSC2 on chromosome 16.

Variable Expressivity

The degree to which a disease may manifest itself can be very reliable. Some
individuals scarcely have any symptoms at all, whereas others are severely
affected. Sometimes very mild symptoms may be overlooked and then, a person
may be wrongly classified as non-affected.

Incomplete Penetrance

This is an extreme case of a low level of expressivity, wherein some individuals

who logically ought to show symptoms, because of their genotype, do not. In such
cases, even the most careful clinical examination has revealed no symptoms, and a
person may be misclassified until suddenly he or she transmits the gene to a child
who is then affected.

Phenocopies

An environmentally-caused trait may mimic a genetic trait. In humans, the drug

thalidomide taken during pregnancy caused phenocopies of the rare genetic
disease Phocomelia, children were born with severe limb defects.

Sex Determination

In mammals, no matter what the chromosomal sex of the somatic cells, the body
will develop as a female unless a male gonad is present to secrete mullerian
inhibiting substance and testosterone. In the genetic condition Testicular
Feminisation, the gene coding for the androgen receptor is not expressed, so that,
although the testes in an XY individual secretes testosterone, the somatic tissues
are unable to respond to it. The individual’s body develops as a woman but with
internal testes instead of ovaries.

A gene SRY encoding Y was discovered, in mice, which is able to transform the
sex of an XX embryo from female to male. Individuals with mutations in this gene
develop as females despite having an XY chromosomal constitution. These XX
males are shown to have inherited from their fathers and X chromosome onto
which a little bit of the Y chromosome carrying SRY has been transferred by an
“illegitimate” cross-over. XX males are entirely normal except that they are infertile,
and their heights are in the normal female range rather than the male.

In birds, males are homogametic ZZ, and females are heterogametic ZW.
Alligators are chromosomally the same in both sexes, they determine sex by the
temperature at which embryos are allowed to develop. If warm, then males are
formed, and if cool, then females are formed.

Sex Linkage

1. Sex-linked recessive genes

Males are hemizygous (have only one copy of the X chromosome), and because
the Y chromosome carries a very few genes, then recessive mutations manifest
themselves in the phenotype of males. If the mutant gene is lethal, such as
Duchenne Muscular Dystrophy, then it takes an unusual event to produce an
affected female.

2. Sex-linked dominant genes – conditions pertaining to this are extremely rare.