Application of ARMS primers for the molecular characterization of (3-thalassemia carrier in Palembang, South Sumatra

• Main Author: Perpustakaan UGM, i-lib
• Format: Article NonPeerReviewed
• Published: [Yogyakarta] : Universitas Gadjah Mada 1996
• Subjects: Jurnal i-lib UGM
• Online Access: https://repository.ugm.ac.id/17436/; http://i-lib.ugm.ac.id/jurnal/download.php?dataId=191
• Institution: Universitas Gadjah Mada

Thalassemia, p-thalassemia in particular is commonly found in Indonesia. An appreciable frequency of p-thalassemia carriers were found in some eastern part of Indonesia. Yet, no data are available from the western part of Indonesia. Moreover, studies on its clinical or molecular aspects are also hardly available. Only one study on a-thalassemia has been recorded, but more intensive studies have been carried out on fi-thalassemia. During this study, p-thalassemia screening is carried out in 108 individuals from Palembang of South Sumatra representing population of the western part of Indonesia. This particular region has been acknowledged to have long historical relationship with population in Thailand and other populations of Southeast Asian mainland where thalassemia is prevalent. Hematological examination revealed that 10 individuals were p-thalassemia carrier and seven ^individuals wereHbE heterozygote. Molecular analysis employing ARMS primers technique proved that all HbE heterozygotes were codon 26 (GAG->AAG) mutation, while among 10 suspected p-thalassemia carriers, five, two and one subjects were IVS I nt5 (G->C), IVS I ntl (G->A) and codon 41/42 (delCTTT) mutation respectively. Only two suspected p-thalassemia carriers were still uncharacterized. The result provides clear evidence about the simplicity and reliability of the technique. In addition, a set of ARMS primer with at least two common one i.e. IVS Int 5 (G->C) and Cd 26 (GAG->AAG) seems to be reasonably useful in Indonesia. The use of additional primers for codon 41/42 (delCTTT) and IVS II nf 654 (C->TJ should be also considered for any particular population in Indonesia especially with strong Chinese influence. Key words : ARMS primers - p-thalassemia carrier - HbE heterozygote - molecular analysis