ANALYSIS OF QUANTITATIVE PCR FOR THE DIAGNOSIS OF DELETION AND DUPLICATION CARRIERS IN THE DYSTROPHIN GENE
ANALYSIS OF QUANTITATIVE PCR FOR THE DIAGNOSIS OF DELETION AND DUPLICATION CARRIERS IN THE DYSTROPHIN GENE
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DOI：
10.1136/jmg.29.3.191
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发表时间：
1992-03-01
影响因子：
4
通讯作者：
BOBROW, M
中科院分区：
文献类型：
--
作者：
ABBS, S;BOBROW, M
一种直接的，非放射性的定量PCR扩增方法已被研究用于诊断肌营养不良蛋白基因的缺失和重复载体。使用多重PCR同时扩增两个基因座或几个基因座允许直接比较来自正常纯合基因座和潜在杂合缺失/重复基因座的产物的相对量。进行足够的PCR循环，以便能够对溴化乙锭染色凝胶上的产物进行目视分析或光密度定量。该方法已在对已知基因型进行的盲法试验中得到验证，并表明在所用条件下，该测定法保持在扩增的指数期内。
A direct, non-radioactive method of quantitative PCR amplification has been investigated for the diagnosis of deletion and duplication carriers in the dystrophin gene. The simultaneous amplification of two loci, or several loci using multiplex PCR, allows for the direct comparison of relative amounts of products from normal homozygous loci and potentially heterozygous deleted/duplicated loci. Sufficient cycles of PCR are performed to enable visual analysis or densitometric quantification of products on ethidium bromide stained gels. The method has been verified in blind trials performed on known genotypes and by showing that under the conditions used the assay remains within the exponential phase of amplification.,