These slides include the chapter No. 09 of Sindh Text Book Board Jamshoro

1. By.
AMEEN MUHAMMAD CHOHAN
Ex-Lecturer Biology
Progressive Public School & College Badin
Former Lecturer Zoology
Pioneer Girl’s College Jamshoro

2. Detection and treatment of some
Genetic Disorder
 4000 genetic disorder have been observed.
 Genetic disorder affects 1 to 2 human population
 Mode of transmission/Acquarance.
 Inherited from parents. Egg or sperm
 Mutation. Any change in genetic material of organism.

3. Genetic Disorder (3 Categories)
 Chromosomal abnormalities:- Change in number &
structure of chromosome.
 Chromosomal non-disjunction.
 Example. Down’s syndrome, Turner’s syndrome
 UNIFACTORIAL DISEASE. Diseases caused by single of
pair of defective gene. Multiple disturbances.
 Huntington's Disease. Chromosome No.04
 Autosomal dominant allele. Heterozygous Dominant
condition.
 Symptoms. After 40-50 Age. Mental retardation,
Involuntary Muscle movement. No treatment.

4.  Cystic fibrosis:-
 A disease caused by autosomal receive allele located on
chromosome No.7, lungs cell to not produced transgen
for chloride ions. Chloride ions accumulates and cause
chronic lungs infections. Body fails to absorb fats and
nutrients from food.
 Treatment. Physiotherapy for lungs. Periodic
treatment, Pancreatic extracts. Lab Diagnose is
possible.

5. Multifactorial Disorders
 Disease caused by addictive affect of many genes.
Along with environment.
 Example.
 Asthma:- Respiratory Disorder, allergy, wheezing,
breathlessness.
 Insulin dependent diabetes mellitus. Type-I. Body fails
to produce insulin.

6. Role of Biotechnology in the
Diagnose of disease
 PCR & DNA probes are basic tool help in Diagnosing
the disease.
 200 disease diagnosed & treated.
 Hybridization detect genes of DNA.

7. Gene Therapy
 The technique of replacing defective gene/allele with
the normal/functional gene therapy.
 It is treatment tool for genetic disorders.
 Induction. Somatic Cell- Individual only
 Germ cells or Embryonic Cell. Effective for
generations.
 First disease treated with Gene therapy is SCID. Sever
combined immuno defiency syndrome.

8. SCID
 Genetic disorder
 Effects Immune System
 Cause by. Defective allele for the production ADA
(Adenosie Deaminase) by bone marrows. Help in
development of Immune Cell B-Cells.
 Body to developed Immune Cell. Immune System
become Weeks.
 Attacked by: Pneumonia ( Swelling of Lungs),
Influenza and other pathogenic Disease.

9. Gene therapy of SCID
 Bone marrow cells are removed .
 A normal gene ADA is cloned.
 Gene for ADA is inserted to Retrovirus, which can
penetrate to Bone marrow for acceptance of Gene.
 Cultured bone marrow cells.
 Inoculated host to body.
 Host bone marrow will produce ADA.
 Somatic Ex-Vivi/Invitro Gene therapy completed.
 Invdividual healthy but will pass defective Gene.

10. Gene Therapy
 In vivo gene therapy. When normal gene is placed for
abnormal gene within body of organism is called in
vivo gene therapy.
 Ex vivo gene therapy. When normal gene is placed
instead of abnormal gene within lab or out side the
body called Ex-vivo Gene therapy or Inviter Gene
therapy.

11. Gene therapy of Cystic Fibrosis
 It is treated with in-vivo process.
 Normal gene for cystic fibrosis is cloned.
 Normal gene wrapped into Microscopic lipid
envelopes called liposome.
 Sprayed through aerosol into lungs epithelia.
 Gene penetrate cells epithelia in lungs and cause
production muscus.

12. Amniocentesis.
 It is a diagnostic procedure in which amniotic fluid is
withdrawn from amniotic sac (Membrane enclosed the
fetus).
 Cell of amniotic fluids & Chemicals are analyzed.
Sequences are determined.
 All Genetic Disorder be detected.
 Down’s syndrome. Simple karyotyping
 Hemophilia, Tay-Sachs, Sickle Cell anemia. Gene
Sequences.
 Performed. 16 to 18 Weeks.

13.  Chorionic villus sampling.
 8 to 10 Weeks of Pregnancy.
 Samples. Fetal Tissue (Chrion)
 Chorionic tissues are drawn from vagina through
Srynge. Easiest to examine.
 ULTRA SOUND SAMPING.
 This technique used high frequency inaudible
ultrasonic waves.
 Waves through bones of fetus reflects back and form
an Image upon Situ to be observed on monitor.
 Morphological observation. Cleft plate, Microcephaly,
Plodactylus, Dextra Cardia.

14.  Genetic Counseling.
 Guidance give to a person by geneticist, about
predicted genetic disorder is called G.C.
 Easy to avoid G.D, No expense, No Harm