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Diagnostic Molecular of Thalassemia (Diagnostik Molekular Thalassemia)

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A diagnosis of thalassemia has advanced from clinical to molecular in concordance with the advances in molecular biology. Since the introduction of polymerase chain reaction procedure-a practical in vitro procedure of deoxyribonucleic acid amplification-various diagnostic methods have been developed, to detects either gene deletions or point mutations. In a population where the spectrum of mutations is not too heterogenous, direct methods such as dot blot or reverse dot blot hybridization, ligase chain reaction and implication refracory mutation system may be applied with high effectivity and efficiency. But, in a population where the spectrum of mutations is very heterogenous other methods such mas mismatch analysis, denaturing gradient gel electrophoresis and single strand conformation analysis as the screening step followed by deoxyribonucleic acid sequancing are chosen. Each of a the above methods has advantages and shortcomings, in relation to various problems among others the sentivity, the specificity, the case, the reproducibility and the cost. In this paper the molecular diagnostics, concerning the priciple, the advantages and the shortcomings, especially that have been used in the field are discussed.

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Berkala Ilmu Kedokteran,28(1)1996:44-51

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: ., 1996

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thalassemia

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