酶标寡核苷酸探针进行β地中海贫血的产前诊断  

Application of horse radish peroxidase labeled oligonucleotide probe for prenatal diagnosis of beta— thalassaemia.

作　　者：廖灿[1] 邱洛琳[1] 蔡旭恒[1] 李坚[1] 易翠兴[1] 徐湘民 

机构地区：[1]广州市妇婴医院遗传研究室,510180 [2]第一军区大学分子生物学实验室,510515

出　　处：《中国实用妇科与产科杂志》1995年第2期85-86,共2页Chinese Journal of Practical Gynecology and Obstetrics

摘　　要：使用辣根过氧化物酶(HRP)标记7对寡核苷酸探针对血液学常规筛查中检出的夫妇双方均为β地中海贫血的家系实行产前诊断,对25例高风险胎儿的产前诊断显示,7例为纯合子或双重杂合子,13例为单一突变的杂合子,说明用基因诊断技术筛查本病准确可靠,有利于优生优育,本文提示目前血液学筛查方法有一定的局限性。Seven pairs of oligonucleotide probe labeled with horse radish preoxide (HRP) were used for diagnosis of beta—thalassaemia in partners who both had a familial background of the disease as diagnosed by conventional screening methods. Twenty—five fetuses at high risk were screened with the probe. Seven of them were found to be homozygote or double heterozygotes, while 13 of them were heterozygotes with single mutation. The results suggested that gene diagnosis of the disease is was more effective than conventional hemologic screening methods.

关 键 词：地中海贫血 产前诊断 酶标 寡核苷酸探针 

分 类 号：R714.55[医药卫生—妇产科学]