PCR-RFLP检测LDL受体基因TaqⅠ多态性位点的研究

Detection of the Taq

应用聚合酶链反应（ＰＣＲ）扩增人类ＬＤＬ受体基因外显子４－内含子４－外显子５片段，ＰＣＲ产物为１５５ｋｂ，ＤＮＡ片段经序列鉴定后，进行ＴａｑⅠ酶切位点的ＲＦＬＰ分析。结果显示：中国汉族人群ＬＤＬ受体基因中存在着ＴａｑⅠ酶切位点多态性；２００个ＬＤＬ受体等位基因中ＴａｑⅠ酶切位点出现的频率为０５１５，该点频率较为适中，可作为中国汉族人群ＬＤＬ受体基因的遗传标志来进行家族性高胆固醇血症（ＦＨ）的基因诊断。所建立起的ＬＤＬ受体基因ＴａｑⅠ位点的ＰＣＲ－ＲＦＬＰ方法具有快速、简便的特点，在ＦＨ的基因诊断上有应用价值。

To develop a rapid and sensitive technique for detecting the Taq Ⅰ polymorphism at the human LDL receptor gene in Chinese, the exon4-intron4-exon5 of the human LDL receptor gene was amplified by polymerase chain reaction (PCR). The PCR products were directly analysed by restriction fragment length polymorphisms (RFLP). The results showed that the Taq Ⅰ polymorphism is associated with the LDL receptor gene in Chinese of Han nationality; The frequency of T + allele (presence of Taq Ⅰ cutting site) is 0 515 in 200 LDL receptor alleles. This technique may be used for rapid and sensitive screening of the LDL receptor gene for the Taq Ⅰ polymorphism.