云南傣族儿童中β-地中海贫血HBB基因的变异分布特征

Objective To characterize the distribution of variation in hemoglobin beta gene ( hemoglobin beta gene, HBB )of β-thalassemia in Dai minority group in Yunnan province, and to establish a rapid and economical method for screening β-thalassemia mutation via optimizing ARMS technique.Methods DNA Sequencing was performed to detect variation in 1755 bp DNA fragment containing whole length of hemoglob beta gene ( 1606 bp) from 209 cases of Dai children with β-thalassemia. The primer design and PCR conditions of ARMS (amplification refractory mutation system ) have been optimized for detecting three frequent variations. Results Among 209 samples, there are 9 variations were detected: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 be efficiently detected by combining condition of both ARMS mismatch primers and 65 ℃ of PCR annealling temperature. Conclusion The distribution of HBB gene variation in the Dai minority group in Yunnan province is different from those of other groups in China. ARMS is an effective, convenient and economical technique for rapid detection of gene mutations of β-thalassemia.

The characteristics of HBB gene variation in Yunnan Dai children beta-thalassemia