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建立了LDL受体基因内含子15pvuⅡ多态性位点的PCR-RFLP技术.利用该技术从人类外周血基因组DNA中分离到一个长为0.81kb的片段,核酸序列测定证明分离的片段是LDL受体基因内含子15.对广东汉族人群内含子15的PvuⅡ位点多态性状况进行了研究,实验显示:广东汉族人群LDL受体基因中存在着PvuⅡ多态性位点;212个LDL受体等位基因PvuⅡ酶切位点出现的频率为0.16,说明PvuⅡ多态性位点可以作为广东人群的遗传标记.
A PCR-RFLP technique was established for the intron 15pvuII polymorphism of LDL receptor gene. Using this technique, a fragment of 0.81 kb was isolated from human peripheral blood genomic DNA. Nucleotide sequencing confirmed that the isolated fragment was an intron 15 of the LDL receptor gene. The polymorphism of PvuⅡ locus in intron 15 of Guangdong Han population was studied. The results showed that there were Pvu Ⅱ polymorphism sites in LDL receptor gene of Guangdong Han population; 212 Pvu Ⅱ enzyme alleles of LDL receptor The frequency of cleavage site was 0.16, indicating that the Pvu Ⅱ polymorphism locus can be used as the genetic marker of Guangdong population.