广西柳州一名孕妇曾生育过2例重型β-地中海贫血患儿,已先后死亡,因此要求进行β-地中海贫血的产前诊断。本文应用 DNA 限制酶酶谱技术,通过对这个家系各成员的β-珠蛋白基因簇单体型分析,鉴定出携带β-地中海贫血基因的染色体的单体型,诊断出胎儿患重型β-地中海贫血,即胎儿细胞携带两个β-地中海贫血基因,其中一个是从曾外祖母,通过祖母、父亲传下来,另一个是从外祖母通过母亲传给胎儿。这是国内对β-地中海贫血产前诊断的首例报道。 A pregnant woman in Liuzhou, Guangxi Province, who had given birth to two children with severe β-thalassemia, has died in succession and therefore requires prenatal diagnosis of β-thalassemia. In this study, DNA restriction enzyme zymography was used to identify the haplotypes of chromosomes carrying β-thalassemia genes by analyzing the β-globin gene cluster haplotypes of each member of this pedigree. Anemia, that is, fetal cells carry two genes for beta-thalassemia, one from the outside grandmother, from grandmother, from the father, and from the grandmother through the mother to the fetus. This is the first report of prenatal diagnosis of β-thalassemia in China.