血管紧张素原基因调控序列多态性与原发性高血压相关性分析

Association of Polymorphism in5'-Regulatory Region of Angiotensinogen Gene with Essential Hypertension

应用ＰＣＲ／ＳＳＣＰ分析及ＤＮＡ测序方法分析正常汉族人群和原发性高血压患者血管紧张素原基因多态性。比较３种不同ＳＳＣＰ带型在７３例原发性高血压患者组及７４例正常对照组中的分布频率，发现带型Ｃ在病例组中的比例（５／７３）高于对照组（１／７４）；ＤＮＡ序列分析表明３种不同带型是由于血管紧张素原基因５＇－调控区－２１６位，点存在Ｇ→Ａ的碱基变异所致，而带型Ｃ的个体为－２１６位，点Ａ／Ａ纯合子，提示该碱基变异可能与原发性高血压的发病相关。

The association of the variant in the5'-regulatory region of angiotensinogen gene withprimary hypertension in the Han Nationality in China was studied by applying PCR-SSCPanalysis and DNA cycle sequencing.The frequencies of three identified SSCp-patterns(pat-tern-A,B,C)in 73 hypertensive subjects were compared with those in 74 normal controls.Itwas found that the number of patterncwas higher in the study group(5/73)than in thecontrols(1/74).The results of DNA sequencing showed that the difference of three SSCP-patterns was caused by a nucleotide substitution G→A at-216 locus in the5'-upstream re-gion of angiotensinogen gene,and the suuects with pattern-C were homozygous for mutantA-allele(genotype A/A).These results suggest that the identified gene variant may be as-sociated with primary hypertension.