Genetics and

Health
Specific learning objectives
At the end of this session, the audience will be able,

• To describe about genetic & health

• To classify genetic disorders

• To enumerate the common genetic disorders

Contents
1. Introduction

2. History of genetics

3. Classification of genetic disorders

4. List of common genetic disorders

5. Preventive & Social measures

 Introduction
• Genetics was coined by William Bateson in
1902

• Study of inherited traits & their variation

• Inherited traits range from obvious physical

characteristics to many aspects of health,
including disease.
How many hereditary diseases
have been identified?
 Introduction
• Over 2300 hereditary diseases
have been identified

• Tjio and Levan reported the

presence of 46 chromosomes in
the normal human karyotype

• 22 pairs of autosomes & a pair of

sex chromosomes
 Chromosomes
• Rod-like condensations of chromatin

• They become visible in the nucleus only during

cell division.

• They occur in pairs – one member of each pair

comes from the father, and the other from the
mother

• Biochemically, they are made up of DNA

• Genetically, they consist of genes

 Genes

• Units of heredity
• They contain the hereditary information encoded in their chemical
structure for transmission from generation to generation
• Genes comprising a pair are alike, the individual is described as
homozygous (AA), if different heterozygous (Aa)
 Genes
• A gene is said to be dominant when it
manifests its effect both in the heterozygous
(Aa) and the homozygous state (AA)

• It is said to be recessive if it manifests only in

the homozygous state (AA)

• They are usually stable

• Mutation – Normal genes converted to

Abnormal genes
 Genome
• It is an organism’s complete set of
DNA, including all of its genes.

• Each genome contains all of the

information needed to build and maintain
that organism.
 Genotype and Phenotype
• Genotype refers to the total genetic
constitution of an individual

• Phenotype refers to the outward expression

of the genetic constitution

Taking the ABO blood group system,

I. The possible genotypes are AA, AB, AO, BB,

BO and OO

II. The phenotypes are A, B and O

Classification of Genetic
Disorders
1. Chromosomal abnormalities

2. Unifactorial (Single gene or Mendelian)

diseases

3. Multifactorial disorders
Chromosomal Abnormalities
• Numerical or structural alterations that occur from time to
time in human beings
• Incidence – 5.6 per 1000 live births
• Of these, 2 per 1000 live births represent sex aneuploidies,
1.7 per 1000 live births autosomal aneuploidies,
1.9 per 1000 live births chromosomal translocations
Chromosomal Abnormalities
1. Non-disjunction 5. Inversion
2. Translocation 6. Isochromosomes
3. Deletion 7. Mosaicism
4. Duplication
 Chromosomal Abnormalities
1. Non-disjunction

• A pair of chromosomes may fail to

separate and both are carried to one
pole.

• The resulting daughter cells contain an

unequal number of chromosomes, 45
or 47.
 Chromosomal Abnormalities
2. Translocation
• A portion of one chromosome
breaks away and becomes
attached to another which is not
homologous to the first
 Chromosomal Abnormalities

3. Deletion
• A piece of a chromosome may
become detached and lost. Severe
loss may be incompatible with live
birth
 Chromosomal Abnormalities

4. Duplication
• Some genes may appear
twice in the same
chromosome
 Chromosomal Abnormalities

5. Inversion
• Chromosomal segment becomes
inverted and then the order of
gene sequence is altered
 Chromosomal Abnormalities

6. Isochromosomes
• Arise because of
misdivision, i.e.,
transverse division instead
of the normal longitudinal
division
 Chromosomal Abnormalities
7. Mosaicism
• Proliferation of cells of two or more
genetically different chromosomal
types

• This can result by mutation or non-

disjunction either during embryo or
later life.
Chromosomal Disorder
The chromosomal disorders are classified as,

1. Relating to sex chromosomes

a) Klinefelter's syndrome
b) XYY syndrome
c) Turners syndrome
d) Super females

2. Relating to autosomes
 Chromosomal Disorder
a) Klinefelter's syndrome
• Abnormal males having two or more X-
chromosomes in addition to one Y-
chromosome (XXY, XXXY).
• Normal autosomal set of 22
• Incidence is 1 in 1000 among males
Main features are
i. Eunuchoid males with non-functional testis.
ii. The growth of hair on the face, axillae and
pubes is scanty.
iii. Gynaecomastia and mental retardation
Chromosomal Disorder
b) XYY syndrome

• Male with extra Y chromosome.

• Features of this syndrome

i. Exceptional height.

ii. Serious personality disorder leading to

behavioural disturbances
 Chromosomal Disorder
c) Turners syndrome
• Most common chromosome disorder in
humans.
• Apparent females with underdeveloped
sex glands.
• 98% of the embryos abort spontaneously.
The remaining 2% reach term.
• Incidence is 1 in 7,500 live-born girls.
• They have 45 chromosomes. The sex
chromosome constitution is XO ( 'O' missing
chromosome).
• Due to non-disjunction of the sex
chromosomes
 Chromosomal Disorder
d) Super females

• Females with 3 to 5 X-chromosomes (XXX,

XXXX, XXXXX).

• The higher the number of X-chromosomes, the

greater the degree of mental retardation and
congenital abnormalities such as
underdeveloped external genitalia, uterus and
vagina
 Chromosomal Disorder
2. Relating to autosomes

Down Syndrome (or) Trisomy 21

• Described by Langdon Down in 1866

• Extra chromosome in the 21st pair

• Incidence is 1 in 900 births

• The frequency increases with rising maternal

age
Chromosomal Disorders
Unifactorial (Single gene or Mendelian) diseases
• Mendelian diseases are inherited according to the Mendelian
Laws
1. Dominant
2. Recessive
3. Sex-linked diseases
Chromosomal Abnormalities
Multifactorial disorders

• Certain attributes such as body stature, intelligence, etc., do not

follow the straightforward laws of inheritance due to a single gene

• Controlled by a number of genes located at different sites

• The final expression of these traits & diseases depends not only
on genes, which are located at different loci but also on the
interaction of the individual with the environment

Ex- Diabetes mellitus, Hypertension, IHD

Genomics
• It is the study of an organism's genome or complete set of DNA,
and how it functions, evolves, and can be edited
Uses
1. Risk Assessment – Screening (carrier, prenatal, newborn, child
& adult)
2. Diagnosis of disease
3. Treatment selection – Target therapies, gene therapy
4. Disease prognosis & monitoring
 Gene therapy
• It is the introduction of a sequence into a cell
with the aim of modifying the cell’s behaviour
in a clinically relevant fashion
Example
• To correct a genetic mutation (cystic fibrosis)
• To kill a cell (cancer)
• To modify susceptibility (coronary artery
disease)
Preventive and Social
Measures
1. Health promotional measures
• Eugenics
• Euthenics
• Genetic counselling
2. Specific protection
3. Early diagnosis & treatment
4. Rehabilitation
Health promotional measures
Eugenics

• Galton proposed the term eugenics for the science which aims
to improve the genetic endowment of human population.

• Defined as “the science of improving the genetic constitution of

a population through breeding”

Types:

1. Negative eugenics

2. Positive eugenics
Health promotional measures
1. Negative eugenics
• It aims to reduce the frequency of hereditary disease &
disability in the community to as low as possible
Strategies adopted:
• Kill the weak and defective
• People who are suffering from serious hereditary diseases
are sterilized or otherwise debarred from producing children
Critics:
• Not acceptable in a civilized world
• Mutations
• Hidden carriers of recessive defects
Health promotional measures
2. Positive eugenics
• It seeks to improve the genetic composition of the population
by encouraging the carriers of desirable genotypes to
assume the burden of parenthood.
Difficulties:
• The majority of socially valuable traits though partially
determined biologically are not inherited in such a simple
way.
• These traits have a complex multi-factorial determination,
both genetical & environmental.
• We cannot determine which gene we transmit
to our children
 Health promotional measures
Euthenics
Principle:

• The provision of an appropriately suitable and healthy

environment enables the genes to express their full healthy
potential. This combination of a suitable environment along with
appropriate heredity is called “euthenics”

• Throughout the course of history, man has been adapting the

environment to his genes more than adapting his genes to the
environment

• Ex- Studies with mentally retarded (mild) children indicated that

Health promotional measures
Genetic counselling

“A communication process that seeks to assist affected and/or at

risk individuals to understand nature of genetic disorder, its
transmission and options available to them in management and
family planning”

1. Prospective genetic counseling

2. Retrospective genetic counseling

Genetic counselling
1. Prospective genetic counseling

• Identifying heterozygous individuals for any particular defect by

screening procedures

• Explaining to them the risk of their having affected children if they

marry another heterozygote for the same gene

• In other words, if heterozygous marriage can be prevented or

reduced, the prospects of giving birth to affected children will
diminish
Example - Sickle cell anaemia and thalassemia
Genetic counselling
2. Retrospective genetic counseling

• This follows when the hereditary disorder has already occurred

within the family.

• A survey carried out by the WHO showed that genetic advice was
chiefly sought in connection with congenital abnormalities, mental
retardation, psychiatric illness & inborn errors of metabolism and
only a few sought premarital advice.
Genetic counselling
2. Retrospective genetic counseling

• The methods which could be suggested under retrospective

genetic counselling are;
• Contraception

• Pregnancy termination

• Sterilization depending upon the attitudes and cultural

environment of the couples involved
Other Genetic Preventive
Measures
• Prevent consanguineous marriages

• Avoid pregnancy among women > 30 years

• Avoid late marriages

Specific protection
• The protection of individuals and whole communities against
mutagens such as X-rays and other ionizing radiations and also
chemical mutagens.

• Rh hemolytic disease of the newborn which is a genetically

determined immunological disorder is preventable by
immunization by anti- D globulin
Early diagnosis & treatment
a) Detection of Genetic Disorders

b) Prenatal diagnosis

c) Screening of newborn infants

d) Recognizing preclinical cases

Services
Type of Conditions Preventive or screening
service action
Primary • Rhesus haemolytic • Postpartum use of Anti-D
screening disease globulin
• Congenital rubella • Immunization of girls
• Congenital • Addition of folic acid (prevent
malformations NTD)
• Control of maternal diabetes
• Avoidance of mutagens and
teratogens
Antenatal • Congenital • USG – Foetal anomaly scan
screening malformations • Maternal serum alpha-
• Chromosomal fetoprotein estimation
abnormalities • Carrier screening for
• Inherited disease haemoglobinopathies
Neonatal • Congenital • Examination of newborn and
screening malformations biochemical test
• Phenylketonuria
• Congenital
Rehabilitation
• Done to patients suffering physical or mental disability

• Help them and their family to lead a better & more useful life
Thank you