GENETICS AND INHERETANCE NOTES

Inheritance is the passing on of genetic information from one generation to the next. Inherited
information is contained inside the nucleus on chromosomes which are thin, thread-like structures
containing deoxyribonucleic acid (DNA) and protein (histones). DNA is a nucleic acid made up of a sugar
(deoxyribose), phosphate and four bases (adenine, thymine, guanine and cytosine) which pair up that
contains all genetic information. A gene is a portion /segment of DNA that carries information to
produce a specific protein. Alleles are alternative forms/ two or more of the same gene (e.g. there are
tall and dwarf or short alleles for height or antigens A, B and O which determine our blood group.

The number of chromosomes in a cell is considered haploid (n) if it has half the number of
chromosomes as a gamete (reproductive cell) produced from meiosis. Diploid (2n) number of
chromosomes are the full complements of chromosomes (somatic or body cells) produced when
fertilization occurs. Each individual carries a pair of chromosomes in their somatic cells; one from each
parent. The halving of chromosome is important to maintain the species number in any organism.
GENETIC TERMS

The basic “laws” of genetics were developed by Gregor Mendel (1826-1867) an Austrian monk who
studied genetics using garden pea plants. He deduced that genes come in pairs and are inherited
as distinct units, one from each parent. Mendel tracked the segregation of parental genes and
their appearance in the offspring as dominant.
Note that for any trait in humans (animals) or plants the same principles apply. Some human traits
investigated may include tongue rolling, albinism (skin colour) and sickle cell anaemia.

In his experiments Mendel crossed a homozygous tall pea plant with homozygous short (dwarf)
pea plant and collected the seeds produced by the plants that resulted. When the seeds were
planted he noticed that all the resulting plants were tall. He called them the first generation
(offspring or F1 generation). He then self-fertilised these tall plants and found that the second
generation (offspring, F2) contained both tall and short (dwarf) plants in approximate 3:1 ratio.

The pattern of inheritance can be explained as follows. He deduced from the first generation that
tallness is due to a dominant allele for height. The allele which causes short or dwarfness is recessive.
He represents these alleles as T= allele for tallness and t=allele for dwarfness. Using these symbols, a
standard format for laying out genetic crosses was proposed. In the previous section the principles of
Mendelian inheritance were given. The law of segregation stats that, the two alleles for each gene are
placed in different gametes. During meiosis the genes separate. The law of dominance states that
when two different alleles are present only one is dominant and will be expressed in the phenotype.

The line method was first used by Mendel but later the Punnett square was introduced.

MONOHYBRID INHERITANCE
Monohybrid inheritance is the passing down of a single characteristic from parents to offspring.
Examples of these single characteristics in humans include shape of ear lobes, albinism and eye colour.
The line diagram below shows how a genetic cross can be done using the line method and Punnett
square methods using height.
Co-dominance inheritance
In this type of inheritance, both alleles are dominant, and both alleles are expressed, so that the
phenotype is a mixture of the effects of effect of each allele.
Sickle cell anaemia and blood group are considered to be codominant traits in humans

The inheritance of the ABO blood groups is controlled by three (multiple) alleles. Blood groups A and B
are both dominant to the allele O. A and B are codominant i.e. there is no dominance between them
therefore both are fully expressed. In the cells of organisms only two alleles can be present (remember
genes occur in pairs). Therefor there are four possible blood types as seen in the table above. Blood
groups A and B have two possible genotypes.
SEX DETERMINATION AND SEX LINKAGE DISEASES

SEX LINKED INHERITANCE IN HUMANS

Punnett square chart showing Sex-linked inheritance showing haemophilia.

Pedigree charts
A pedigree chart shows how a specific trait is passed down among family members. Pedigree charts can
be used to determine the genotypes, or possible genotypes, or the individuals shown, and to predict
possible genotypes and phenotypes of future offspring. The information is used by genetic counselors
to identify potential risks for future offspring developing genetic disorder.