สถาบันวิจัยวิทยาศาสตร์สาธารณสุข

National Institute of Health of Thailand

Detection of beta –thalassemia mutation by BeTha Gene 2 DNA probe assay

Authors : Suphichaya Themserekul*, Siripakorn Sangkitporn*, Duangkamon Asawutmangkul* ,Somchai Sangkitporn*

 

Affiliations:        *National Institute of health, Department of Medical Science, Ministry of Public Health, Nonthaburi
 
 
Source:            Journal of Allied Health Sciences 2003; 1: 71-80
 
 
Language:        Thai with English abstract
 
 
Abstract:
 
Beta –thalassemia is a heterogeneous group of inherited disorders.      In Thailand, the gene frequencies of beta-thalassemia are vary between 1-9%. There are about 25 beta-thalassemia mutations but only 4 (-28 cap, codon 17, codons 41-42 and IVS 2 nt 654) account for 80 % of beta-thalassemia. Many techniques based on polymerase chain reaction (PCR) have been developed for the detection of previously identified mutations. In this study, “BeTha Gene 2” , a DNA probe assay designed for the qualitative determination of the 8 most common Southeast Asia beta-thalassemia mutations (codons 41-42, codon 17,   -28, codon 19, IVS 2:654, IVS 1:5, codons 71-72 and Hb E) was studied in comparision with the reference method reverse dot-blot hybridization. Results conducted from 40 DNA samples indicated that 39 DNA samples showed reliable outcome within the common 8 mutations in comparison with reverse dot blot. Due to the absence of IVS 1:1 probe in BeTha Gene 2 DNA probe assay, one DNA sample with IVS 1:1 heterozygote could not be detected in this study. In conclusion, BeTha Gene 2 DNA probe assay could be used to detect beta-thalassemia mutations in the Central, the North and Northeast of Thailand where more than 85% of beta-thalassemia mutations could be detected by this assay. Samples with unknown mutations after detection by this test should be further characterized by other PCR-based procedures such as reverse dot blot, DGGE or direct DNA sequencing.