Experimental Study On Genome Sequencing Of Thalassemia In Longyan Area Of Fujian Province

ObjectiveThe characteristics of thalassemia patients in Longyan City,Fujian Province were detected by gene sequencing.New point mutations of hemoglobin subunit alpha globin gene and beta globin gene were found.MethodsThree deletion mutants,--^SEA,-α^3.7 and-α^4.2,were detected by the gap PCR.The hemoglobin subunit alpha genes and hemoglobin subunit beta gene of thalassemia patients was PCR-amplified followed by purifying and Sanger sequencing,and the hemoglobin type and proportion of interested samples were analysis by capillary electrophoresis.Results10 new point mutations of hemoglobin genes were found,namely HBA1:codon 14 TGG>TGA,HBA1:IVS-I-65A>G,HBA1:codon 139 AAA>ATA,HBA2:-43 G>C,HBA2:c.*136A>G,HBB:-99 G>A,HBB:-96 G>A,HBB:-62G>A,HBB:c.56 C>T and HBB:3′UTR+133 G>C.4 of the 15 thalassemia patients were HBA1:codon 14 TGG>TGA carriers.Conclusion10 new point mutations of hemoglobin genes were found,enriching the hemoglobin gene mutation database.HBA1:codon 14 TGG>TGA may be a common alpha-thalassaemia mutation in the population of Longyan,Fujian Province.It is necessary to determine the HBA1:codon 14 TGG>TGA carrying rate of thalassemia patients in this area by large-sample test.