Clinical application of semiconductor gene sequencing in screening thalassemia / 实用医学杂志

ABSTRACT

Objective To investigate the feasibility of semiconductor gene sequencing technology for thalassemia clinical screening and evaluate its application as compared with the results of PCR technology.Methods 197 visiting patients were randomly selected as prospective samples and200 patients ever diagnosed with thalassemia as previous samples.All the samples were detected by semiconductor technology gene sequencing and PCR technology at the same time and then evaluation of the advantage of semiconductor gene sequencing technology.Results 22 cases of 197 prospective samples were detected as thalassemia mutations by PCR technology,including 18 cases of α-thalassemia,3 cases of β-thalassemia,1 case of oα merge β thalassemia mutations.Semiconductor technology gene sequencing detected another 6 cases of rare type of thalassemia.By semiconductor gene sequencing technology on previous samples,118 cases of α-thalassemia,65 cases of β-thalassemia,17 case of α merge β thalassemia mutations,1 case of thalassemia mutations (HBA 1c.223G ＞ C) were detected.By statistical analysis,the total coincidence rate of PCR technology and semiconductor gene sequencing was 98.5％,withthe Kappa =0.97(≥ 0.8).Conclusion Semiconductor gene sequencing technology for thalassemia clinical screening is feasible,for it can detect both thalassemia gene type,and new mutation.The results of semiconductor gene sequencing technology are accurate and the technology could be popularized in clinical application.