Analysis on thalassemia gene of 4 657 household people in Yantian district of Shenzhen city / 国际检验医学杂志

ABSTRACT

Objective To investigate the carrying rate and genotype of thalassemia in the household population of Yantian dis-trict in Shenzhen city so as to provide the scientific basis for Thalassemia genetic counseling,prenatal diagnosis and prevention plan. Methods 3 mL of anticoagulation blood by EDTA-K2 was extract for conducting the whole blood cells analysis.With the mean cor-puscular volume(MCV)<80 fL as the preliminary screening test,then the suspected cases were performed the DNA extraction for conducting the gene test.In theα-thalassemia detection,4 pairs of PCR primer were used to amplify in the same reaction system and the results were analyzed according to the band after the agarose gel electrophoresis.In theβ-thalassemia detection,the PCR product sequencing was adopted.Results After the preliminary screening,4 657 suspected cases all were performed the gene detection.510 carriers with thalassemia gene were detected out with the thalassemia gene carrying rate of 10.95%,including 389 cases carryingα-thalassemia gene with the carrying rate of 8.35%,which was dominated by α-3.7,α-4.2 and α-SEA,and 121 cases carrying βthalassemia gene with the carrying rate of 2.59%,which was dominated by CD41.42,LVS-Ⅱ-654,CD17 and CD71.Conclusion The carrying rate of thalassemia gene in the household population of Yantian district was 10.95%,which is closed to that in other districts within Guangdong province,all of the 8 detected genotypes of thalassemia are the common types.