LECTURE 10 – INHERITANCE

When a sperm cell fuses with a secondary oocyte, the genetic material of the father and
mother unite to form a zygote. This process is called inheritance. It is the passage of
hereditary traits from one generation to the next. It is the process by which you acquire
your characteristics from your parents and may transmit some of your traits to your
children. The area of biology that deals with inheritance is called genetics.

 Genotype and Phenotype

The nuclei of all human cells except gametes contain 23 pairs of chromosomes. One
chromosome in each pair comes from the mother, and the other comes from the father.
These chromosomes that make up a pair are called homologues and they contain genes
that control the same traits.
Genes that code for the same trait may be different. Such genes that are at the same
location on homologous chromosomes are called alleles.
A mutation is a permanent heritable change in an allele that produces a different variant
of the same trait.

The relationship of genes to heredity is illustrated by examining the alleles involved in a

disorder called phenylketonuria (PKU). Such patients cannot produce the enzyme
phenylalanine hydroxylase.
The allele that codes for phenylalanine hydroxylase is symbolized by P. The mutated
allele that fails to produce a functional enzyme is symbolized by p.
The four spaces on the chart show how the alleles can combine in zygotes formed by the
union of these sperm and ova to produce the three different genetic makeups or
genotypes – PP, Pp or pp. Thus,
 Those who inherit PP or Pp genotypes do not have PKU
 Those who inherit a pp genotype suffer from the disorder

The allele P that codes for the normal trait is more dominant than the PKU allele p. This
is why people who have the Pp genotype do not have PKU. Thus, the dominant allele is
the allele that dominates or masks the presence of another allele and is fully expressed.
The trait expressed is the dominant trait. The allele whose presence is completely
masked is said to be the recessive allele and the trait it controls is the recessive trait.
A person with the same alleles on the homologous chromosomes (e.g. PP or pp) is said to
be homozygous for the trait. PP is homozygous dominant and pp is homozygous
recessive. An individual with different alleles on homologous chromosomes (e.g. Pp) is
said to be heterozygous for the trait.

Phenotype refers to how the genetic makeup is expressed in the body – it is the physical
or outward expression of a gene. A person with a PP has a different genotype than a
person with a Pp but they both have the same phenotype – normal production of the
enzyme phenylalanine hydroxylase. However, individuals who carry a recessive gene
but do not express it can still pass the gene to their offspring. Such individuals are called
carriers of the recessive gene.

Alleles that code for normal traits do not always dominate over those that code for
abnormal ones, but dominant alleles for severe disorders usually are lethal and cause
death of the embryo or foetus.

Occasionally an error in cell division occurs. This is called nondisjunction and it results
in an abnormal number of chromosomes. In this situation, homologous chromosomes or
sister chromatids fail to separate properly during anaphase of meiosis or mitosis. In this
way, a cell ends up either with one or more chromosomes of a set added or deleted and
the cell is said to be aneuploid.
 A monosomic cell (2n – 1) is missing a chromosome.
 A trisomic cell (2n + 1) has an extra chromosome.
An example of nondisjunction is Down’s syndrome which is due to trisomy of
chromosome 21. In most instances, nondisjunction occurs during gametogenesis but in
2% of cases it occurs during mitotic divisions in early embryonic development.

Another error in meiosis is translocation. Here, two chromosomes that are not
homologous break and interchange portions of their chromosomes. Some genetic
material may be lost. So, when the individual make gametes, some of the gametes may
not contain the correct amount and type of genetic material.
For example, 21% of Down’s syndrome cases result from a translocation of part of
chromosome 21 to another chromosome, usually either chromosome 14 or 15.
The table below shows some dominant and recessive inherited traits.

DOMINANT RECESSIVE
Normal skin pigmentation Albinism
Near- or Farsightedness Normal vision
Curved (hyperextended) thumb Straight thumb
Normal Chloride transport Cystic Fibrosis
Familial Hypercholesterolaemia Normal cholesterol level

 Variations on Dominant-Recessive Inheritance

The phenotypic expression of a particular gene may be influenced not only by which
alleles are present but also by other genes and the environment. Moreover, most
inherited traits are influenced by more than one gene, and most genes can influence more
than a single trait.

 Incomplete Dominance
In incomplete dominance, neither member of an allelic pair is dominant over the other,
and the heterozygote has a phenotype intermediate between the homozygous dominant
and the homozygous recessive phenotypes.

An example is Sickle-Cell Disease.

 - People with the homozygous dominant genotype HbAHbA form normal
haemoglobin.
- People with the homozygous recessive genotype HbSHbS form have sickle-cell
disease and severe anaemia.
- People with the heterozygous dominant genotype HbAHbS are usually healthy
but have minor problems with anaemia because half their haemoglobin is normal
and half is not. These people are carriers and they have the sickle-cell trait.

 Multiple-Allele Inheritance
Although a single individual inherits only two alleles for each gene, some genes may
have more than two alternate forms. This is the basis of multiple-allele inheritance.

An example is the inheritance of the ABO blood group. The four blood types
(phenotypes) of the ABO group are A, B, AB and O. These result from the inheritance of
six combinations of three different alleles of a single gene called the I gene:
- Allele IA produces the A antigen.
- Allele IB produces the B antigen.
- Allele i produces neither A nor B antigen.

The six possible genotypes produce 4 blood types:

Genotype Blood Type (Phenotype)

IAIA or IAi A
IBIBA or IBi B
IAIB AB
ii O

Both IA and IB are inherited as dominant traits whereas i is inherited as a recessive trait.
In blood type AB, the alleles are said to be codominant since both genes are expressed
equally in the heterozygote.
  Complex Inheritance
Most inherited traits are not controlled by one gene, but instead by
 the combined effects of two or more genes – a situation referred to as
polygenic inheritance
 the combined effects of many genes and environmental factors – a
situation referred to as complex inheritance

Examples include skin colour, hair colour, eye colour, height, metabolism rate and body
build. Often a complex trait shows a continuous gradation of small differences between
extremes among individuals.

 Autosomes, Sex Chromosomes and Sex Determination

A normal somatic cell contains 46 human chromosomes forming 23 different pairs of

chromosomes. In 22 of the pairs, the homologous chromosomes look alike and have the
same appearance in both males and females. These 22 pairs are called autosomes. The
members of the 23rd pair are called sex chromosomes and they look different in males
and females.
 In females, the pair consists of two X chromosomes.
 In males, there is one X chromosome and a much smaller chromosome called the
Y chromosome.

When a spermatocyte undergoes meiosis, it gives rise to two sperm that contain an X
chromosome and two sperm that contain a Y chromosome. Oocytes only produce X-
containing gametes.
  Sex-Linked Inheritance
The sex chromosomes are also responsible for the transmission of several nonsexual
traits. Many of the genes for these traits are present on X chromosomes but are absent
on the Y chromosomes. This feature produces a pattern of heredity that is termed sex-
linked inheritance.
Examples include Red-Green Colour Blindness.

The gene for red-green colour blindness is a recessive one designated c. Normal colour
vision, designated C, dominates. The C/c genes are only located on the X chromosome.
The possible combinations are as follows:

Genotype Phenotype
XCXC Normal female
XCXc Normal female but a carrier
XcXc Red-green colour blind female
XCY Normal male
XcY Red-green colour blind male

Other examples of sex-linked inheritance are:

 Haemophilia
 Fragile X Syndrome
 Nonfunctional Sweat Glands
 Certain forms of diabetes
 Some types of deafness
 Uncontrollable rolling of the eyeballs
 Absence of central incisors
 Night blindness
 One form of cataract
 Juvenile glaucoma
 Juvenile muscular dystrophy