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目的:对88例夫妇地中海贫血(地贫)基因携带者的胎儿进行脐血或羊水产前基因诊断。方法:在B超引导下抽取羊水或脐血应用聚合酶链反应(PCR)技术行地贫基因诊断。结果:88例中α-地贫纯合子(巴氏水肿胎)7例,基因诊断分析均为--SEA/--SEA,血红蛋白(Hb)H病2例,基因诊断分析为--SEA/α3.7,--SEA/α4.2。杂合子28例,其中5例为点突变,23例为缺失型,正常胎儿23例。β-地贫高风险中,查得双重杂合子(重型β-地贫)4例,基因诊断为71-72并CAP双重杂合突变,41-42并17双重杂合突变,654并17双重杂合突变,41-42并654双重杂合突变。单一突变的杂合子21例,其中654杂合突变5例,41-42杂合突变14例,28杂合突变2例,正常3例。重型地贫胎儿11例,Hb H病2例均及时终止妊娠。结论:对夫妇地贫基因携带者行产前基因诊断是阻止重型地贫患儿出生的有效措施。
OBJECTIVE: To perform cord blood or amniotic fluid prenatal genetic diagnosis of 88 couples with thalassemia (thalassemia) carriers. Methods: The diagnosis of thalassemia was performed by polymerase chain reaction (PCR) in amniotic fluid or umbilical cord blood under the guidance of ultrasound. Results: Among the 88 cases, 7 cases of α-thalassemia homozygotes (Pap smear) were diagnosed by genetic diagnosis analysis. The results of genetic diagnosis were - SEA / - SEA and hemoglobin (Hb) H disease in 2 cases. α3.7, - SEA / α4.2. Heterozygotes 28 cases, of which 5 cases of point mutations, 23 cases of missing type, normal fetus in 23 cases. In the high risk of β-thalassexia, 4 cases of double heterozygote (heavy β-thalassemia) were found, the gene diagnosis was 71-72 and CAP double heterozygous mutation, 41-42 and 17 double heterozygous mutation, 654 and 17 double Heterozygous mutations, 41-42 and 654 double heterozygous mutations. A single heterozygous mutation in 21 cases, including 654 heterozygous mutation in 5 cases, 41-42 heterozygous mutation in 14 cases, 28 heterozygous mutation in 2 cases, normal in 3 cases. Eleven patients with severe thalassemia, Hb H disease in 2 cases were terminated in time. Conclusion: Prenatal genetic diagnosis of couples with thalassemia carriers is an effective measure to prevent the birth of children with severe thalassemia.