Analysis of Gene Mutation Types of Thalassemia in Yulin Childbearing-age Population of Guangxi China / 中国实验血液学杂志

ABSTRACT

OBJECTIVE@#To investigate the genotype distribution of thalassemia in the population of childbearing age in Yulin area.@*METHODS@#The polymerase reaction (PCR) combined with agargel eletrophoresis and reserve dot bolt hybridization was used to detected the α- and β-thalassemia gene in 31 769 cases of suspected thalassemia population at childbearing-age.@*RESULTS@#A total of 22 254 cases were identified as thalassemia gene detetion or mutation in 31 769 cases with a detecting rate of 70.05%, and the detecting rate of α-thalassemia, β-thalassemia and α-combining β-thalassemia were 45.86% (14 569/31 769), 19.45% (6 178/31 769) and 4.74% (1 507/31 769) respectively. 28 kinds of α-thalassemia gene mutations were detected, the common mutations were as follows: --@*CONCLUSION@#The detection rate of thalassemia gene is high in Yulin caildbearing-age population, and there is diversity in mutation spectrums of thalassemia. The most common genotypes are --