Analysis on gene diagnosis results of α-thalassemia in Luzhou area / 重庆医学

ABSTRACT

Objective To analyze the genetic mutation patterns and the constituent ratio of α-thalassemia in Luzhou area and to investigate the clinical application value of the gene diagnosis .Methods The PCR method combined with DNA chip hybridization technique was adopted to conduct the gene detection and analysis on 116 cases of suspectedα-thalassemia .Results Among 116 sus-picious cases of α-thalassemia ,39 cases were found with genotypes of α-thalassemia ,the detection rate was 33 .62% .7 kinds of mu-tation genotypes were detected ,in which the deletion type of - -αSEA/ααaccounted for 41 .03% and the deletion type of -α3 .7/ααaccounted for 25 .64% .Conclusion The main gene mutation of α-thalassemia in Luzhou area is the deletion type of - -αSEA/αα. The gene diagnosis is an important criterion for definitely diagnosing α-thalassemia .