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目的扫描肾素基因发现新的多态性,探讨肾素基因新多态性与原发性高血压的关联性。方法运用聚合酶链反应单链构象多态性(PCRSSCP)方法,对肾素基因(REN)外显子48进行扫描,以发现新的多态性;运用聚合酶链反应限制性片段长度多态性(PCRRFLP)确定新的多态性,在日本人212例原发性高血压(EH)者和209例正常血压(NT)者中进行病例对照研究。结果PCRSSCP法发现外显子4下游第17碱基对处内含子4区域的一个单核苷酸多态性(SNP)T+17int4G;DNA测序确定多态性。PCRRFLP确定基因型后结果显示T+17int4G的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(P<0.05)。结论内含子4的T+17int4GSNP与日本人原发性高血压无关联性。
Objective To discover new polymorphisms of renin gene and explore the relationship between renin gene polymorphism and essential hypertension. Methods The polymerase chain reaction single strand conformation polymorphism (PCRSSCP) method was used to scan renin gene (REN) exon 48 to find new polymorphism. Polymerase chain reaction restriction fragment length polymorphism (PCRRFLP) to identify new polymorphisms in a case-control study in 212 Japanese essential hypertension (EH) and 209 normotensive (NT) subjects. Results A single nucleotide polymorphism (SNP) T + 17int4G was detected in the intron 4 region of the 17th base pair downstream of exon 4 by PCR SSCP. DNA sequencing confirmed the polymorphism. PCRRFLP confirmed genotype results showed that T +17 int4G genotype frequencies in the essential hypertension and normotensive group no significant difference (P <0.05). Conclusion Intron 4 T + 17int4GSNP was not associated with Japanese essential hypertension.