%0 Journal Article
%T Screening C282Y Mutation with Double-Stranded Probes Using Synchronous Fluorometry
双链探针同步荧光技术快速筛查C282Y点突变
%A Yong-You Zhang
%A Qing-Ge Li
%A Guo-Yan Luan
%A Ji-Xuan Liang
%A
张永有
%A 李庆阁
%A 栾国彦
%A 梁基选
%J 遗传
%D 2003
%I
%X We described in the paper a new high-throughput screening method for Cys282Tyr mutation in hereditary haemochromatosis with double-stranded probe using synchronous fluorometry. The probe for wild type was labeled with Fam, the probe for mutant type was labeled with Joe. After PCR, reaction tubes were transferred to a spectrofluorometer, where synchronous spectra were scanned in a constant-wavelength mode. The genotype could be obtained through the appearance of the fluorescence peaks corresponding to each probe. The results were totally in agreement with restriction endonuclease analysis. Considering the simplicity,low cost and specificity, this approach could be generally applied to detect varieties of gene mutations.
%K haemochromatosis
%K double-stranded probe
%K synchronous fluorometry
%K mutation screening
双链探针同步荧光技术
%K 快速筛查
%K C282Y
%K 点突变
%K 基因突变
%K 遗传性血色病
%U http://www.alljournals.cn/get_abstract_url.aspx?pcid=90BA3D13E7F3BC869AC96FB3DA594E3FE34FBF7B8BC0E591&jid=3E23F50E071DF18E21B2F5AEE4F1FA5E&aid=528FF32B8B65B7D2&yid=D43C4A19B2EE3C0A&vid=C5154311167311FE&iid=CA4FD0336C81A37A&sid=9CF7A0430CBB2DFD&eid=FC0714F8D2EB605D&journal_id=0253-9772&journal_name=遗传&referenced_num=3&reference_num=11