Department: Clinical Laboratory Sciencest Course number: CLS 453

Course title: Medical Genetics Credit hours 2 + 1 = 3

 

Course Description

This course is designed to give a basic understanding of the theoretical and practical aspects of medical genetics. In addition to molecular medical genetics includes cytogenetics, DNA, RNA, mutation, mutation detection technique, PCR, cloning, population genetics and clinical genetics. In the practical applies al the technique used in medical genetics like gel electrophoresis, DNA extraction, PCR and bioinformatics.

 

CLS 453: lectures outline

Weeks subjects

1.    History of genetics

2.    The cell

3.    Cytogenetics (Chromosomes)

4.    DNA structure and function

5.    Mutation 6. Mutation Detection Techniques

6.    PCR 8. Cloning 9. Population Genetics

7.    Clinical Genetics and Genetic Disorder

8.    Chromosomal disorders

9.    Single gene disorder

10.  Sickle Cell Anaemia & thalassemia

 

CLS 453: Laboratory schedule

Weeks subjects

1.    Safety and Precautions in pre-PCR and post-PCR : avoiding Contamination; how to handle DNA samples

2.    Buffer and electrophoresis: - TAE stock buffer - TBE stock buffer - Agarose gel - Polyacrylamide gel (PAGE) - Stains 3,

3.    DNA Extraction RNA Extraction Tissue Extraction

4.    PCR Amplifucation Design Primers Reagents to be used (kit) DNA Marker (Ladder)

5.    bioinformatics: - Database of Genes - Gene Bank - Gene Map 7-13 technique used after PCR - Mutation Detection - SSCP - DHPLC - Restriction Enzymes - ARMS - ASO - Sequencing

 

References

1.            

 EMERY'S ELEMNTS of MEDICAL GENETICS  

1.    PETR TURNPENNY and SIAN ELLARD .
EMERY'S ELEMNTS of MEDICAL GENETICS.2007.
13th edition.
ELSEVIER
ISBN 978-07020-2917-2

 MEDICAL GENETICS  

2.    IAN D.YOUNG. MEDICAL GENETICS. 2005.
OXFORD UNIVERSITY PRESS. 1st edition.
ISBN: 0-19-8564945