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

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 ß-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, ß-thalassemia and α-combining ß-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 --SEA/αα (28.18%), -α3.7/αα (6.29%), -α4.2/αα (3.66%), αCSα/αα (1.93%) and αWSα/αα (1.89%)，and including two rare gene mutations -THAI and HKαα. 16 kinds of ß-thalassemia gene mutations were detected, the common mutations were as follows ß41-42/ßN (9.41%), ß-28/ßN (3.05%), ß-17/ßN (2.86%) and ß654/ßN (2.18%). 93 kinds of α combining ß-thalassemia gene mutations were detected, the common mutations were as follows --SEA/αα (1.05%) and -α3.7/αα (0.56%) combining ß41-42/ßN. 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 --SEA/αα in α-thalassemia and ß41-42/ßN in ß-thalassemia. The results are beneficial for the intervention and genetic consultation of thalassemia.