LIFE SCIENCES

GRADE 12

Genetics and Inheritance

Compiled by Subject Advisors - FSDoE

TERMS EXPLANATION
Alleles are alternate forms of a gene localised on the same locus on
Allele
homologous chromosomes
Cloning The process by which genetically identical organisms are formed using
biotechnology
Co-dominance A genetic cross in which both alleles are expressed equally in the phenotype,
e.g. Blood group AA x BB = AB.
Dihybrid cross Two different characteristics/traits are being shown in the genetic cross, e.g.
length and hair colour
Diploid Cells contain a complete set of genetic material (2n). Chromosomes appear
as homologous pairs. This means a diploid cell may have two different alleles
for a single characteristic
An allele that is expressed (shown) in the phenotype when found in the
Dominant allele
heterozygous (Tt) and homozygous (TT) condition
Dominant allele An allele that is always expressed in the phenotype
A short piece of DNA containing a particular nucleotide sequence carrying a
Gene
specific trait e.g. tallness
Gene pool The total collection of genes making up all the individuals in a population (i.e.
every gene of every member of the population)
Genetic The manipulation of the genetic material of an organism to get desired
modification changes
Genome The whole of an organism's hereditary information encoded in its DNA/ All the
genes present in an organism
Genotype The genetic makeup of an individual
Haploid Cells contain half a set of genetic material (n) in each nucleus. Chromosomes
are unpaired. Only one allele is present for each characteristic
Heterozygous/ When the two alleles for a particular trait in an individual are different
Hybrid
Homozygous/ When both alleles controlling a particular trait in an individual are the same
Pure breeding/
True breeding
Incomplete A genetic cross between two phenotypically different parents produces
dominance offspring different from both parents but with an intermediate phenotype, e.g.
red flower x white flower = pink flower
Karyotype The number, shape and arrangement of all the chromosomes in the nucleus
of a somatic cell
Law of States that when two individuals with pure breeding contrasting
Dominance characteristics are crossed, the individuals of the F1 generation all display the
dominant characteristics
Law of States that the various “factors” controlling the different characteristics
Independent (height, colour etc) are separate entities, not influencing each other in any
assortment way, and sorting themselves out independently during gamete formation
Law of States that, for each characteristic, a plant possesses “two factors” (genes)
Segregation which separate or segregate so that each gamete contains only one of these
factors
Locus The particular position occupied by a gene on a chromosome
Monohybrid Only one characteristic or trait is being shown in the genetic cross
cross
Multiple alleles More than two alternative forms of a gene at the same locus e.g. blood
groups have 3 alleles, i.e. A, B and O
Mutation A change in the nucleotide sequence of a gene, resulting in a new allele
Phenotype The physical appearance, behaviour and physiology of an individual due to
the expression of genes. (i.e. phenotype is determined by the genotype)
Polygenetic A feature that is controlled by two or more genes found on the same or
inheritance different chromosomes. A series of phenotypes usually occurs over a
continuous spectrum, e.g. skin colour in humans
An allele that is masked (not shown) in the phenotype when found in the
Recessive allele heterozygous (Tt) condition. It is only expressed in the homozygous (tt)
condition
Recessive allele An allele that is expressed in the phenotype if not accompanied by a
dominant allele
Sex-linked Characteristics or traits that are carried on the sex chromosomes, e.g.
characteristics haemophilia and colour blindness
Differences between individuals within a population. These differences may
Variation be due to environment (e.g. nutrition, soil type) or heredity. Evolution is
concerned only with genetic or heritable variations
 Concepts in inheritance Monohybrid crosses
- Chromatin and chromosomes - Format for representing a genetic
- Genes and alleles cross (refer to template)
- Dominant and recessive alleles * Mendel's Principle of Segregation
* The Law of Dominance - Types of dominance:
- Phenotype and genotype # Complete dominance
- Homozygous and heterozygous # Incomplete dominance
# Co-dominance

Genetic engineering
- Stem cell research – sources and uses
- Genetically modified organisms
Sex determination
- Cloning - Gonosomes (XX and XY chromosomes)
- Autosomes
Paternity testing through:
• Blood grouping Sex-linked alleles and sex-linked disorders
• DNA profiles Genetics problems involving the following sex-
GENETICS & linked disorders:
INHERITANCE • Haemophilia
Genetic links • Colour-blindness
Mutations in mitochondrial DNA used in
tracing female ancestry Blood grouping
- Different blood groups are a result of multiple
alleles
Mutations
- The alleles IA, IB and i in different
- Definition of a mutation
combinations result in four blood groups
• Effects of mutations: harmful,
harmless and useful mutations
• Mutations contribute to genetic
variation Dihybridcrosses
• Definition of gene mutation and * Mendel's Principle of Independent
chromosomal mutation Genetic lineages/pedigrees Assortment
• Mutations lead to altered A genetic lineage/pedigree traces
characteristics & genetic disorders: the inheritance of characteristics - Dihybrid genetics problems
• Haemophilia over many generations - Determination of the proportion/ratio
• Colour-blindness of genotypes and phenotypes
• Down syndrome Interpretation of pedigree diagrams
Note: This template should only be used by learners for first few problems, thereafter learners are requested to
know the format.

Characteristic: __________________________

Key: __________________________________

P1 Phenotype ____________ x _______________

Genotype _____________ x _______________

Gametes ___, ___, ___, ___ x ___, ___, ___, ___

Fertilisation

F1 Genotype _____________________

Phenotype ____________________

------------------------------------------------------------------------------------------------------------

Characteristic: __________________________

Key: __________________________________

P1 Phenotype ____________ x _______________

Genotype _____________ x _______________

Gametes ___, ___, ___, ___ x ___, ___, ___, ___

Fertilisation

F1 Genotype _____________________
Phenotype_____________________
SEX LINKAGE AND INHERITANCE OF SEX ALTERATIONS IN PHENOTYPE MAY RESULT FROM CHROMOSOME MUTATIONS
A karyotype is an expression of the
A mutation is an alteration in the DNA content of a cell.
number, size, and shape of chromosomes
in an organism.
WHAT SHOULD HAPPENS: Adult 2N = 46 BUT SOMETIMES HAPPENS: Adult 2N = 46
The human karyotype indicates that:
The chromosomes are arranged in
homologous pairs. In humans there are
N= 23 N=23 (due to non-disjunction)N= 24 N=23
23 pairs and we say that the diploid
number is 46 (2N = 46= 2 x 23)
GAMETES FUSE during FERTILIZATION
Down syndrome (Trisomy 21): There is an ‘extra’ chromosome at the 21st chromosome pair (47)
Phenotypic changes e.g. narrowed eyes, broad forehead, and heart abnormalities

CO-DOMINANCE
Some genes have more than two alleles.
For example, the gene controlling the
human ABO blood groups has three alleles,
given as genotypes IA, IB and i.
IA and IB are equally dominant
Females have 22 pairs + XX in the (co-dominant) but both are dominant to i.
karyotype and males have
22 pairs + XY Genotype Phenotype
IAIA or IAi Blood group A
IBIB or IBi Blood group B
XX XY INHERITANCE OF SEX IAIB Blood group AB
Female x Male ii Blood group O
P1 XX x XY
The Y chromosome is so small that GAMETES X X and Y
X Y
there is little room for any genes
X XX XY
other than those for ‘maleness’ Red-green colour blindness & haemophilia
X XX XY
but the X chromosome can carry
some genes as well as those for Sex linked disorders where the alleles for colour
1:1 ratio male : female blindness or haemophilia are recessive and
‘femaleness’ –these additional The male gametes determines the carried on the X-chromosome. Much more
genes are X-linked ( Sex linked) sex of the offspring males than females suffers from colour
blindness and haemophilia