You are on page 1of 17


1.1 What is medical genetics?
Medical genetics involves any
application of genetics to medical
practice. It thus includes studies of the
inheritance of diseases in families, the
mapping of disease genes to specific
locations on chromosomes, analyses of
the molecular mechanisms through
which genes cause disease, and the
diagnosis, treatment and prevention of
genetic disease.
1.2 Why is a knowledge of medical genetics
important for today’s practicing
About 50% of all first trimester
spontaneous abortions result from a
chromosomal abnormality.
About 3% of all newborns have a
major genetic disease.
About half of all pediatric deaths are
ultimately attributable to genetic disease.

About 2% of all adults will suffer from
a single gene genetic disease.
The vast majority of common diseases
like diabetes mellitus, atherosclerotic
vascular disease, and mental illness are
the result of the interplay of a number of
genes and environmental factors.
Approximate prevalence of some important
genetic diseases.
1.3 What is genetic disease?
Genetic disease is the disease which is
caused by the change of the genetic
1.4 Types of genetic diseases
(1)Chromosome disorders,, in which
entire chromosomes, or large segments of
them, are missing, duplicated, or
otherwise altered. These disorders
include diseases such as Down syndrome
and Turner syndrome.
(2)Single-gene disorders, in which
single genes are altered. Well-known
examples include diseases such as
achondroplasia, phenylketonuria, and
Duchenne muscular dystrophy.
(3)Mitochondrial disorders, a
relatively small number of diseases due
to alterations in the small cytoplasmic
mitochondrial chromosome.
(4)Multifactorial disorders, which are
due to a combination of multiple genetic
as well as environmental causes. Many
congenital malformations, such as neural
tube defects, as well as many adult
disorders, including diabetes mellitus
and coronary artery disease, belong to
this category.
(5)Somatic cell genetic disorders.
Genetic mutations may only arise after
birth and be confined to certain somatic
cells and their descendants. These genetic
faults are now known to play a key role
in the causation of many common
cancers and may also be involved in the
ageing process.
After we have learned this chapter we
should be able to :
1.Describe what medical genetics and
genetic disease are.
2.List the types of genetic diseases.