PCR Detection of ?-thalassemia 1 (Southeast Asian Type) Carriers in the South Northern Thailand

Chonnanit Choopayaka; Apinun Limmongkon; Urasri Suyasunanont; Supak Poungbangpho

Authors

Chonnanit Choopayaka Department of Biochemistry, Faculty of Medical Science, Naresuan University, Phitsanulok65000, Thailand.
Apinun Limmongkon Department of Biochemistry, Faculty of Medical Science, Naresuan University, Phitsanulok65000, Thailand.
Urasri Suyasunanont Department of Biology, Faculty of Science, Naresuan University, Phitsanulok 65000,Thailand.
Supak Poungbangpho Department of Biochemistry, Faculty of Medical Science, Naresuan University, Phitsanulok65000, Thailand.

Keywords:

α-thalassemia 1, Southeast Asian type (---SEA), PCR

Abstract

The alpha thalassemia is the inherited disorder commonly found in Thailand and is characterized by a decrease or lack of synthesis of the α globin chain. One of the severe form of α-thalassemia is α-thalassemia 1 (α-thal 1,--) which is caused by the deletion of both duplicated alpha globin genes. The most common mutation of α-thal 1 found in Thai population is the Southeast Asian type gene deletion (---^SEA), which is caused by the deletion of 17.5 kb α globin gene. The objective of this study was to survey the α-thal 1 carriers (SEA type) in people who lived in the south northern Thailand. One hundred pregnancies attending Antenatal Clinic unit (ANC) during 16-25 August 1999 at Buddhachinaraj Hospital, Phitsanulok, were studied using the polymerase chain reaction (PCR) technique. Three primers were used, one (A1B) was in the deletion area of α-thal 1, the other two (A4 and A9) were adjacent to the 5’ and 3’ breakpoint of deletion. PCR products were 570 bp and 194 bp DNA fragment. The 570 bp PCR product was specific to the α-thal 1 determinant and the 194 bp fragment was amplified from either α-thal 2 (-α) or normal alpha globin (αα) determinants. The results showed that 95 samples obtained the 194 bp DNA fragment where 5 samples out of 100 samples obtained both 194 bp and 570 bp DNA fragment. The study demonstrated five percentage of α-thal 1 carriers (SEA type) found in the pregnancies attending ANC unit at Buddhachinaraj Hospital.

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