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| 应用PCR—SSCP法检测LDL受体基因多态性 | |
| 引用本文： | 周天鸿 李月琴. 应用PCR—SSCP法检测LDL受体基因多态性[J]. 中国优生与遗传杂志, 1997, 5(3): 13-14,17 |
| 作者姓名： | 周天鸿 李月琴 |
| 作者单位： | 暨南大学生物工程系!广州，510632(周天鸿，李月琴，梁志成)，广州暨南大学华侨医院(王彤歌) |
| 基金项目： | 广东省自然科学基金!950644 |
| 摘 要： | 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扩增产物进行了单链构象多态性分析（ＳＳＣＰ），其中２个图谱出现异常，序列证实是由ＬＤＬ受体基因外显子２第１４位碱基因Ｔ置换由Ｃ，形成多态性，建立的这种方法可以快速，简便地分析了ＬＤＬ受体因外显子２的多态性。 |
| 关 键 词： | 低密度脂蛋白 受体 基因多态性 聚合酶链反应 |
Detection of the polymorphism in exon 2 of the human LDL receptor gene by PCR-SSCP |
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| Zhou Tianhong, Li Yueqin, Wang Tongge, LiangZhicheag. Detection of the polymorphism in exon 2 of the human LDL receptor gene by PCR-SSCP[J]. Chinese Journal of Birth Health & Heredity, 1997, 5(3): 13-14,17 | |
| Authors: | Zhou Tianhong Li Yueqin Wang Tongge LiangZhicheag |
| Abstract: | 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. |
| Keywords: | LDL receptor gene Polymorphism PCR SSCP |
| 本文献已被 CNKI 维普 等数据库收录！ | |