Abstract

The application of PCR technique in genetic screening was demonstrated using the genetic materials from buccal cells of the students in the class. Two factors were taken into consideration when designing the experiments. The DNA region to be amplified should not be associated with any disease state. This is to eliminate any emotional and ethical problems associated with the experiments. In this practical, the presence and absence of a 38 bp sequence in the intron of COLIA2 gene were studied. The students were also shown on how to analyse the presence of homozygous and heterozygous alleles and the genetic variations that might be observed in the different ethnic groups of students. Another factor was the time taken to complete the experiment. Our experience showed that this experiment would take at least six hours to obtain and analyse the results. It is therefore suitable to be used in class teaching.

Highlights

  • Polymerase Chain Reaction (PCR) is a rapid, inexpensive and simple means of producing relatively large numbers of copies of DNA molecules from minute quantities of source DNA material

  • PCR technique has been used as a diagnostic tool for the detection of genetic and infectious diseases (l,2,3)

  • Watson & Dalgleish (S) had developed a procedure using PCR technique to detect a length polymorphism which is not associated with any known disease state (6) in the human pro a2(I) colJagen gene locus (COLl A2)

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Summary

INTRODUCTION

Polymerase Chain Reaction (PCR) is a rapid, inexpensive and simple means of producing relatively large numbers of copies of DNA molecules from minute quantities of source DNA material. Most patients with osteogenesis imperfecta (01) have mutations in either.the COLlAI or COLlA2 genes. These genes encode the al (I) or a2(I) subunits of type 1 collagen, the major organic component of bone and dentine (4). Watson & Dalgleish (S) had developed a procedure using PCR technique to detect a length polymorphism which is not associated with any known disease state (6) in the human pro a2(I) colJagen gene locus (COLl A2). In this ·practical, students were given the opportunity to perform the experiments themselves using their own genetic materials extracted from their buccal cells. +Department of Biochemistry, Medical Faculty, University of Malaya, S0603 Kuala Lumpur

MATERIALS AND METHODS
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