Application of Genetics
Genetic Inheritance
DNA and Protein Synthesis
Mutation
Dr. Nor Azlina Abd. Aziz
azlina_nal@um.edu.my
019-2829307
Genetic disorders or diseases
MUTATIONS in the: Genome, Chromosome or Gene
GENETIC in the form of decrease or increase in the
amount of genetic material or, abnormal
DISORDER genetic material
LEADING TO Increase or decrease in the amount of
gene products (proteins) OR, Defective
function of the protein
CLINICAL MANIFESTATIONS
of GENETIC DISEASES
Types of Genetic Diseases
Some genetic disorders are entirely environmental and
others are wholly genetic
Single Gene Disorders (Mendelian disorders)
Chromosomal Disorders
Multifactorial Disorders
Mitochondrial Disorders
Acquired Somatic Genetic Diseases
Pedigree analysis
In humans, pedigree analysis is an important
tool for studying inherited diseases
Pedigree analysis uses family trees and
information about affected individuals to:
Figure out the genetic basis of a disease or
trait from its inheritance pattern
➢ autosomal, recessive
➢ autosomal, dominant
➢ X-linked, recessive
➢ X-linked, dominant (very rare)
Predict the risk of disease in future offspring
in a family (genetic counseling)
Mendelian disorder
Autosomal Sex-linked
Dominantly Inherited Disorder: Dominantly Inherited Disorder:
• Huntington Disease • Fragile X-syndrome
• Achondroplasia • Incontinentia pigmenti (skin
lesions)
• X-linked rickets (bone lesions)
Recessively Inherited Disorder: Recessively Inherited Disorder:
• Cystic fibrosis • Duchenne Muscular Dystrophy
• Albinism • Hemophilia
• Sickle-cell hemoglobin • Colour Blindness
• Phenylketonuria
• Tay-Sachs disease
Genetic Test
A type of lab test used to find out any changes in a DNA sequence,
gene, or chromosome which causes genetic abnormality
The genetic test is used to;
▪ determine the reason for the occurrence of the genetic disease.
▪ identify mutations or changes associated with the genetic
disease.
▪ genetic status of an individual (whether he or she is normal,
affected or carrier for particular disease).
▪ for identification of a gene associated with the disease.
▪ to determine the severity of the disease using gene expression
assays.
Genetic Test
Genetic Test
A chromosome test is used for the detection or identification of
numerical or structural abnormalities associated with chromosomes
e.g., cry-du-chat syndrome, down syndrome, Patau syndrome, and
Edward syndrome.
A DNA test is used to detect any change in a DNA sequence
(called a mutation), causes abnormal genotype and consequently
results in abnormal phenotype. For example, sickle cell anemia,
thalassemia, Huntington’s disease, and cystic fibrosis.
Several types of cancer are now diagnosed using the genetic
testing method. For example, chronic myeloid leukemia is
diagnosed using the chromosome test while breast cancer or
cervical cancer are now diagnosed using molecular genetic
methods.
Genetic disorder management
Genetic Counselling
Education and guidance offered by professional advisors in
order to help people make informed decisions based on genetic
knowledge.
Providing information about genetic conditions with counselling
support so that individuals can make personal decisions about
the management of their health, their children’s health, or their
pregnancies.
may be helpful to people interested in knowing more about:
▪ The chances of having or developing an inherited condition
▪ A family history of cancer
▪ A family history of a condition that might be inherited
▪ The chances of having a child with an inherited condition
▪ Prenatal testing for high risk pregnancies
Current Therapy of Genetic Disorders
Preventive
Metabolic Manipulation
Gene Product Therapy
Cell or Organ Transplantation
Gene Therapy
Genetic Engineering
Metabolic Manipulation
Dietary restriction (Lactose restriction for Lactase deficiency;
phenylalanine restriction for phenylketonuria)
Dietary Supplementation (Vitamin C for Scurvy, Biotin for
Biotinidase deficiency, Starch for G-6-P deficiency)
Chelation and enhanced excretion (copper chelation for
Wilson Disease)
Metabolic inhibitors (allopurinol for gout, Statins for
hypercholesterolemia,)
Gene Product Therapy
Hormone, protein or enzyme replacement
Hormone supplementation:
• Hypothyroidism: thyroid
• Congenital adrenal hyperplasia: cortisol
• Growth hormone
Hemophilia; clotting factors
Diabetes: insulin
Enzyme replacement
• Beta glucosidase : Gauchers
• Alpha glucosidase: Pompe
• Adenosine deaminase (PEG): ADA- SCID
Cell or Organ Transplantation
Cells - Bone marrow, Immunodeficiency Disorders
Organs - Kidney (Fabry Disease), Liver (Tyrosinemia)
Gene Therapy
Types:
Introduction of normal gene – Somatic, germ line
Therapy of noninherited disorders - cancer, AIDS
Production of gene product for administration -hemophilia,
growth hormone, erythropoietin
A: How gene therapy works, B: Overview of gene therapy.
~ The End ~
