重症β-地中海贫血高风险胎儿的产前基因诊断

Prenatal Diagnosis of β-thalassemia Majer in Fetus of Carrier Couple

目的 :为父母双方均为 β -地中海贫血携带者的高风险胎儿进行产前基因诊断。 方法 :用PCR扩增结合反向点杂交技术 (RDB)对胎儿羊水细胞进行 β -地中海贫血的基因分析。 结果 :该家庭父亲为 β - Ⅱ -654(GT)杂合子 ,母亲为 β -CD17(AC)杂合子 ,胎儿为CD17突变杂合子 ,属无症状 β -地中海贫血携带者。 结论 :PCR -RDB技术产前基因诊断 β -地中海贫血高风险胎儿方法可行 ,避免重症患儿出生 。

Objective:To give prenatal gene diagnosis for fetus whose parents are β-thalassemia carriers.Methods:Polymerase chain reaction and reverse dot blot(PCR-RDB) were used to analyze DNA of amniotic fluid cells. Resulcts: In this family,the father is IVS -Ⅱ-654 heterozygote,mather is CD 17 heterozygote,the fetus is CD 17 heterozygote. Conclusion: PCR-RDB might be a good method in prenatal diagnosis of β-thalassemia, which can help us to reduce the birthrate of β-thalassemia and improve birth quality.