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Thalassemia Diagnosis Using Polymerase Chain Reaction (Diagnostik Thalassemia dengan Polymerase Chain Reaction)

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The clinical diagnosis of thalassemia syndrome is not difficult to establish with relatively simple Investigations, but molecular study is needed to determine the genotype and for the prenatal diagnosis. In the molecular study, the DNA should be first amplifed and among the amplification techniques polymerase chain reaction is the simplest and the most rapid one. The procedure can in vitro amplify a DNA segment million times. It has been used extensively in the molecular studies. while amplifying a DNA segment, polymerase chain reaction can detect gene deletion directly. A procedure based on polymerase chain reaction principles using allele specific oligonucleotide primer(s), called Amplication Refractory Mutation System (ARMS), can detect mutan(s) directly. Reverse dot not hybridization on polymerase chain reaction product using allele specific oligonucleotide probe(s) has many advantages. Elther ARMS or RDB procedure, both have very high sensitivity and specificity, need only a short time, and are relatively inexpensive. Using appropriate allele specific oligonucleotide(s). Either as probe(s) or primer(s), commonly occured mutants in a certain population can be detected easily.

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Cermin Dunia Kedokteran,(110)1996:26-31

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: ., 1996

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polymerase chain reaction
thalasemia

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