Meng H, Qiu C, Zhu X
Institute of Basic Medical Sciences, CAMS, Beijing.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 1996 Oct;18(5):343-7.
The association of the variant in the 5'-regulatory region of angiotensinogen gene with primary hypertension in the Han Nationality in China was studied by applying PCR-SSCP analysis and DNA cycle sequencing. The frequencies of three identified SSCP-patterns (pattern-A, B, C) in 73 hypertensive subjects were compared with those in 74 normal controls. It was found that the number of pattern-C was higher in the study group (5/73) than in the controls (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 the 5'-upstream region of angiotensinogen gene, and the subjects with pattern-C were homozygous for mutant A-allele (genotype A/A). These results suggest that the identified gene variant may be associated with primary hypertension.
采用聚合酶链反应-单链构象多态性分析（PCR-SSCP）及DNA循环测序技术，研究血管紧张素原基因5'-调控区变异与中国汉族人群原发性高血压的关系。比较了73例高血压患者和74例正常对照者中所发现的三种SSCP模式（模式A、B、C）的频率。结果发现，研究组中模式C的数量（5/73）高于对照组（1/74）。DNA测序结果显示，三种SSCP模式的差异是由血管紧张素原基因5'-上游区-216位点的核苷酸替换G→A所致，模式C的受试者为突变A等位基因纯合子（基因型A/A）。这些结果提示，所鉴定的基因变异可能与原发性高血压有关。
