α－球蛋白基因缺失的DNA扩增指纹图谱法分析  

Detection of deletions in α-globin gene cluster by PCR with consensus sequence primers

作　　者：陈燃[1] 杨树青[1] 温俊娥 王世平[1] 于女 毛裕民[1] 

机构地区：[1]遗传工程国家重点实验室,复旦大学遗传学研究所

出　　处：《复旦学报（自然科学版）》1996年第6期625-631,共7页Journal of Fudan University：Natural Science

基　　金：国家自然科学基金

摘　　要：应用计算机辅助设计，选择α－珠蛋白基因簇中断裂好发部位或其外侧一致ＤＮＡ序列设计引物，在包含低温退火的条件下，扩增并分析α－珠蛋白基因缺失的ＤＮＡ指纹图谱，并据此对６１例α－地中海贫血病人进行了基因分型诊断．该方法稳定、可靠，可望用于临床诊断．he deletion breakpoints in α-globin gene cluster or the adjacent DNA sequences were selected in designing primers. Several DNA amplification fingerprinting (DAF) products were generated under appropriate conditions after amplification of genomic DNA sequences in the PCR by using consensus sequence primers. The DAFs were mainly derived from the α-globin genes cluster and specific to deletions of α-globin genes. A total of 61 patients suffered from α-thalassemia were diagnosed by DAF typing using differences between these patients and the normal. This method has shown promising potential in clinics.

关 键 词：地中海贫血 α-珠蛋白基因 DNA 扩增指纹图谱 

分 类 号：R556.610.4[医药卫生—血液循环系统疾病]