[Analysis of Gene Mutation Types of Thalassemia in Yulin Childbearing-age Population of Guangxi China].

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: --/αα (28.18%), -α/αα (6.29%), -α/αα (3.66%), αα/αα (1.93%) and αα/αα (1.89%)，and including two rare gene mutations: - and HKαα. 16 kinds of β-thalassemia gene mutations were detected, the common mutations were as follows: β/β (9.41%), β/β (3.05%), β/β (2.86%) and β/β (2.18%). 93 kinds of α combining β-thalassemia gene mutations were detected, the common mutations were as follows: --/αα (1.05%) and -α/αα (0.56%) combining β/βN.

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 --/αα in α-thalassemia and β/βN in β-thalassemia. The results are beneficial for the intervention and genetic consultation of thalassemia.