【摘要】 应用限制性内切酶图谱技术对2例患有Hb H病的孕妇及其丈夫进行了α-珠蛋白基因组织分析,并对他们的胎儿进行了产前基因诊断。查明1例孕妇为左侧缺失型Hb H病患者基因型为-α/--),其丈夫为α-地中海贫血1(基因型为αα/--),其胎儿为Hb Bart’s水肿胎儿(基因型为--/--);另一例孕妇为右侧缺失型Hb H病患者(基因型为α-/--),其丈夫和胎儿均为α-地中海贫血1(基因型为αα/--)。引产或分娩后,取脐带血重复验证,证实产前诊断完全正确。更多还原

【Abstract】 The α-globin gene organization of two pregnant women with Hb H disease and their hus bands were analysed, by using restriction endonuclease mapping technique. and their fetuses were prenatally diagnosed. The α-globin gene organization of one woman was identified to be leftward deletion Hb H (-α/--) , her husband to be α-thalassemia-1 (αα/--) , and her fetus to be Hb Bart’s hydrops fetalis (--/--) . The α-globin gene organization of the an other pregnant woman was identified to be rightward deletion Hb H (α-/--) , both her husband and fetus to be α-thalassemia-1 (αα/--) .The prenatal diagnoses were confirmed by hemoglobin analysis of the cord blood after the fetal birth or abortion.更多还原