应用PCR-SSCP法检测LDL受体基因多态性

Detection of the polymorphism in exon 2 of the human LDL receptor gene by PCR-SSCP

利用聚合酶链反应（PCR）从人白细胞DNA中扩增到一条长为172碱基的LDL受体基因外显子2DNA片段，对30个PCR扩增产物进行单链构象多态性分析（SSCP），其中有2个图谱出现异常。序列证实是由于LDL受体基因外显子2第14位碱基由T置换为C，形成多态性。建立的这种方法可以快速、简便地分析LDL受体基因外显子2的多态性。

The exon 2 of the human LDL receptor gene was amplified by polymerase chain reaction (PCR)- PCR products 2 were l72bp in length.A polymorphism site was direcdly detected by the single strand con formation. polymorphism (SSCP ) and confirmed by DNA sequencing analysis. SSCP analysis of these tragments showed 2 of 30 samples have different SSCP patterns from the others. The sequences of PCR preducts suggests that the polymorphism site is caused by the T-C substitution in the 14th nucleotide of exon- 2. This protoco1 will allow rapid and sensitive screening of the LDL receptor gene for polymorphism site.