摘要
目的 :对可能生育 α地中海贫血 (地贫 )高危胎儿的夫妇进行产前基因诊断。方法 :通过绒毛膜穿刺、羊膜腔穿刺及脐带血穿刺获取胎儿 DNA,应用聚合酶链反应 (PCR)等方法进行 α地贫产前基因诊断 ,并于分娩后取胎儿脐带血检测 Hb Bart's含量。结果 :771对夫妇的胎儿检出 Hb Bart's胎儿水肿综合征 73例 ,Hb H病 4 7例 ,东南亚 (SEA)缺失型 α地贫 - 1杂合子 2 5 1例 ,α地贫 - 2 (- α3.7,- α4 .2 缺失型或非缺失型 Hb CS)杂合子 85例 ,α珠蛋白基因正常 315例 ,及 2例纯合子 α地贫 - 2。胎儿合并重型 β地贫 2 1例 ,轻型 β地贫 4 5例。误诊 Hb H病 1例。结论 :广西地区 α地贫携带者夫妇的基因型组合较为复杂 ,合并 β地贫亦较常见。本文所实施的产前基因诊断可有效检出 Hb Bart's胎儿水肿综合征、Hb H病胎儿 ,及各种 α地贫杂合子。
Objective:To practice prenatal diagnosis on the couples at high risk of having fetus with α-thalassemia (thal).Methods:After obtaining fetal DNA by chorionic villus sampling and amniocentesis, using PCR method to detect genotypes and testing Hb Bart's level of cord blood after birth.Result:The α globin genotypes of 771 fetuses were as follows: Hb Bart's hydrops fetalis syndrome 73, Hb H disease 47, heterozygous α-thal-1 of the Southeast Asian (SEA) deletion type 251, heterozygous α-thal-2(-α 3.7, -α 4.2 α-thal -2 and Hb CS) 85, normal α globin genotype 315 and 2 for homozygous -α 3.7 α-thal-2. There were 21 fetuses compounded with severe β-thal and 45 cases with heterozygous β-thal. One case with Hb H diseasd was misdiagnosed.Conclusion:It was rather complicated for the genotypes compose of the couples with α-thal in Guangxi,and co-inheriting with α-thal was very common on them. Prenatal diagnosis can detect fefus with Hb Bart's hydrops fetalis syndrome, Hb H disease and heterozygote α-thal effectively.
出处
《广西医科大学学报》
CAS
2004年第5期644-646,共3页
Journal of Guangxi Medical University
