海南地区地中海贫血基因分型及频率的研究

目的 探讨海南地区地中海贫血基因突变的类型和频率.方法 采用聚合酶链反应(PCR)、琼脂糖凝胶电泳和反向斑点杂交(RDB)技术进行地中海贫血基因分型的检测.结果 在2000例受检者中,α阳性率为35.95％,常见亚型为-SEA/αα；β阳性率为25.80％,常见亚型为β41-42/βA.结论 海南地区地中海贫血发生率较高,做好婚前及产前地中海贫血基因诊断等工作,对避免地中海贫血患儿的出生,提高当地人口素质具有重要意义.

Genotyping and frequency of f thalassemia in Hainan province

Objective To investigate the genotypes and frequency of thalassemia in Hainan Area. Methods By using Polymerase Chain Reaction （PCR）, agarose gel electrophoresis and reverse dot blot hybridization （RDB） to test the thalassemia genotypes of 2000 patients. Result Out of the 2000 subjects tested, 719 ct-thalassemia cases and 8 genotypes were detected with a positive rate of 35.95%,the main genotypes were-SEA/eta,. In addition, 514 β-thalassemia cases and 20 genotypes were also investigated with a positive rate of 34.59%,the chief genotypes was β41-42/βA,at the same time it found there were 89 cases of α- thalassemia compound β-thalassemia and 23 genotypes in this test, the main genotypes was -α3.7/αα com- pound β41-42/βA. Conclusions The incidence of thalassemia is high in Hainan province and genetic screening and prena- tal diagnosis of thalassemia is indicated to improve the quality of the population.