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利用人珠蛋白基因簇内限制性内切酶息点的多态性为遗传标志,通过家系分析,成功地完成了四例β-地中海贫血的早期产前诊断。三例利用连锁多态性进行诊断,一为β-地贫纯合子,建议终止妊娠后,用胎儿血的血红蛋白肽链分析证实了这一诊断。一为正常或β-地贫杂合子,排除了β-地贫纯合子。另一例为β-地贫杂合子。第四例经分析与特异等位基因相连锁的DNA多态性证实为β-地贫杂合子。以上三例均建议继续妊娠。
Based on the genetic polymorphism of the restriction endonuclease point in human globin gene cluster, early prenatal diagnosis of four cases of β-thalassemia was successfully completed by pedigree analysis. Three cases were diagnosed using linkage polymorphisms, one for homozygous beta-thalassexis, suggesting termination of pregnancy with hemoglobin peptide analysis of the fetal blood confirming this diagnosis. One is a normal or β-thalassemia heterozygote, excluding β-thalassemia homozygotes. Another example is β-thalassexis heterozygotes. The fourth case of DNA polymorphisms linked to specific alleles was confirmed as beta-thalassemia heterozygotes. The above three cases are recommended to continue pregnancy.