摘要
应用聚合酶链反应(PCR)技术,对10例高危妊娠者进行缺失型α-地中海贫血的产前诊断。结果:检测出胎儿水肿综合征患儿2例,杂合子4例,正常儿4例。扩增出现630bp左右的DNA片段,说明有东南亚型缺失突变,为纯合于(--/--)。出现224bp的扩增片段则为正常人(αα/αα)。两种片段都出现则为杂合子(--/αα)。提示PCR技术用于α-地中海贫血的产前诊断,快速、准确。
bjective To study the gene of deletional α-thalassemia of the Southeast Asian type(SEA) and to perform the antenatal diagnosis. Metbods A new method of polymerase chain reaction technique using three primers bridging the breakpoints was carried out for carrier detection and antenatal diagnosis of deletional α-thalassemia of thesoutheast Asian type; A DNA fragment of about 630bp in size was arnplified in case of--SEA alleles,while a 2 24 bp fragment was amplified in samples without the deletion. Homozygotes,heterozygotes,and normal suUects could be clearly distinguished with the present method. Results We used this method in the genotyping and antenatal diagnosis of 10 high risk pregnan-cies of α-thalassemia,2 homozygotes, 4 heterozygotes, and 4 normal infants were found. Conclusion The present method is simple and rapid in detection of carriers and antenatal diagnosis of the α-thalassemia of southeast Asian type.
出处
《中华妇产科杂志》
CAS
CSCD
北大核心
1995年第10期597-599,共3页
Chinese Journal of Obstetrics and Gynecology
基金
国家计划生育委员会资助
关键词
Α地中海贫血
聚合酶链反应
产前诊断
Alpha-Thalassemia Polyrnerase chain reaction Antenatal diagnosis