The characteristics of HBBgene variation in Yunnan Dai children beta-thalassemia

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：Objective Tocharacterize the distribution of variation in hemoglobin beta gene ( hemoglobin beta gene,HBB )of β-thalassemia in Dai minority group in Yunnan province, and toestablish a rapid and economical method for screening β-thalassemia mutation viaoptimizing ARMS technique.Methods DNA Sequencing was performed to detect variation in 1755bp DNA fragment containing whole length of hemoglob beta gene ( 1606 bp) from 209 cases ofDai children with β-thalassemia. The primer design and PCR conditionsof ARMS (amplification refractory mutation system ) have been optimized for detectingthree frequent variations. Results Among 209 samples, there are 9 variations weredetected:CD2 T＞ C (50.72%),CD26 G ＞A(35.41%),CD17 A ＞T(12.92%),IVS-Ⅱ-17 C ＞ G (12.44%), IVS-Ⅱ-16 G＞C(11.96%),ⅣS-Ⅰ-30 A＞G(9.57%) , CD6 G ＞A(9.09%),CD41-42 (-TCTT) (7. 18%) and CD5 T＞A(1.92%). Three mutations(CD21, CD35 and CD43) were first reported in China. There are 167, out of 209 participants(79.90%), carrying HBB gene variation. Three common mutations (CD2, CD26 and CD17 ) can beefficiently detected by combining condition of both ARMS mismatch primers and 65 ℃ of PCR annealling temperature. Conclusion The distribution of HBBgene variation in the Dai minority group in Yunnan province is different from those ofother groups in China. ARMS is an effective, convenient and economical technique for rapiddetection of gene mutations of β-thalassemia. Key words: Beta-thalassemia;  Mutation;  Hemoglobin beta gene;  Sequenceanalysis

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