β-地贫是我国南方常见的遗传病,严重危害人民健康。在β-地贫纯合子,患者常常在几岁前夭亡。该病目前尚无根治办法,一项积极的措施就是通过产前诊断控制重型β-地贫发生。由于β-地贫一般是由于β-珠蛋白基因结构的细微变化,故不能象诊断α-地贫那样用限制性内切酶图谱的方法直接做出诊断。 我们采用分析与β-类珠蛋白基因簇连锁的多态性切位点的方法,通过家系分析判断胎儿是否遗传了父母的致病基因。现已用妊娠8～10周的胎绒毛进行了两例早期产前诊断,均获成功。临床上确定两家系的 β-thalassemia is a common genetic disease in southern China, seriously endangering people’s health. In beta-thalassematic homozygotes, patients often die before they are a few years old. The disease is currently no cure, a positive measure is to control the occurrence of severe β-thalassemia through prenatal diagnosis. Since beta-thalassemia is generally due to subtle changes in the structure of the beta-globin gene, diagnosis by restriction endonuclease mapping can not be directly diagnosed as with the diagnosis of alpha-thalassemia. We used a method of analyzing polymorphic sites linked to the beta-globin gene cluster to determine whether the fetus inherited the parent’s disease-causing genes through pedigree analysis. Has been used for pregnancy 8 to 10 weeks of the fetal hair two cases of early prenatal diagnosis, were successful. Clinically determine the two lines