聚合酶链反应技术用于缺失型α─地中海贫血的分子筛查和产前诊断  

Molecular screening and prenatal diagnosis of thedeletional alpha-thalassemia by polymerase chain reac-tion amplification

作　　者：徐湘民[1] 蔡旭恒[1] 李坚[1] 秦清和[1] 易翠兴[1] 张基增 廖灿[1] 彭朝晖[1] 邱洛琳[1] 

机构地区：[1]第一军医大学生化教研室,广州市妇婴医院

出　　处：《中华医学杂志》1994年第8期495-497,共3页National Medical Journal of China

摘　　要：用血液学方法筛查育龄夫妇８４３２人，检出α一地中海贫血（α一地贫）６４６例，从中随机取出典型阳性样本１００例，用聚合酶链反应（ＰＣＲ）直接分析法进行基因诊断，结果９６例“标准型”α一地贫和３例血红蛋白（Ｈｂ）Ｈ病的ＤＮＡ样品均可检测到（－－ＳＥＡＩ）突变，另１例α一地贫复合ＨｂＱ样品未检测到该突变。此外，采用本法完成了７个重症α一地贫高风险胎儿的产前诊断。or the genetic counceling, 8 432 blood samplesfrom Chinese couples were screened for detectingα -thalassemia in Guangzhou city. The positivediagnosis of 646 (7.66%) α-thalassemia patients wasmade. One hundred DNA random samplrs from theabove positive cases were collected and were analysedby using polymerase chain reaction (PCR) to deter-mine the genotype of α -thalassemia of SoutheastAsian deletion(-SEA / ). Of 100 α-thalassemia indi-viduals sereened for the (-SEA / ) mutation, 99 (96with α-thalassemia trait and 3 with hemoglobin Hdisease) were detected by the present method. Thismutation was not found in the remaining one withα -thalassemia compound Hb Q. We also used this as-say to analyse DNA samples from cord blood in 6preguancies at risk of Bart′s hydrops fetalis, in 1 atrisk of Hb H disease for prenatal diagnosis.

关 键 词：地中海贫血 聚合酶链反应 产前诊断 

分 类 号：R714.504[医药卫生—妇产科学]