摘要
目的扫描肾素基因发现新的多态性,探讨新多态性与原发性高血压相关性。方法运用聚合酶链反应单链构象多态性(PCR-SSCP)方法,对肾素基因外显子4-8进行扫描,以发现新的多态性;在日本人212例原发性高血压(essentialhypertension,EH)者和209例正常血压(normotension,NT)者中进行病例对照研究。结果PCR-SSCP法发现外显子8上游第18碱基对处内含子7区域可变数目串联重复序列(VNTR),DNA测序确定此多态性为重复7-12次的TCTG。病例对照研究显示VNTR基因型频率在原发性高血压和正常血压组中无显著性差异。结论本文发现的肾素基因新的VNTR多态性与原发性高血压无相关性。
Objective To screen coding region of human renin gene to find new polymorphisms and investigate relationships between essential hypertension(EH) and polymorphisms of renin gene.Methods Using the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) method, we discovered a new variable number of tandem repeat (VNTR) polymorphism in intron 7 that is 18bp upstream from the boundary with exon 8.Nucleotide sequencing revealed that this VNTR polymorphism is a tandem repeat of the 4-nucleotide sequence TCTG.There are six alleles of this VNTR polymorphism,ranging from 7 repeats to 12 repeats.We analyzed the association between EH and this VNTR polymorphism in 212 hypertensive patients and 209 age-matched normotensive (NT) subjects.Results There was no significant difference in the overall distributionof this VNTR polymorphism between the EH and normotensive subjects.Conclusion We discovered a novel VNTR polymorphism in the rennin gene, and this polymorphism was not associated with EH.
出处
《同济大学学报（医学版）》
CAS
2005年第3期25-28,共4页
Journal of Tongji University(Medical Science)
