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目的 了解血管紧张素转换酶(ACE)的单核苷酸多态性 (SNPs)与高血压的相关性。方法 制备一种基于PCR 序列特异寡核苷酸探针法 (PCR SSOP)原理的寡核苷酸阵列芯片,用于对ACE基因的多个SNPs位点(C5467T,A9596G,A11860G,intron16上 287bpI/D)的同步检测, 并采用该芯片测定了 50名健康者和 80例高血压患者ACE基因的多态性谱。结果 高血压患者ACE基因A11860G的基因型分布为(AA: 24;AG: 10;GG: 46),与健康者的基因型分布 (AA: 15;AG: 18;GG: 17)相比较差异有统计学意义 (χ2 = 11 39,P< 0 01);高血压患者ACE基因I/D的基因型分布为 (II: 37;ID: 12;DD:31),与健康者的基因型分布(II: 23;ID: 5;DD: 22 )相比较差异有统计学意义 (χ2 =12 87,P< 0 01);而C5467T、A9596G的基因型分布在两组人群中未见差异有统计学意义。结论 ACE基因A11860G和I/D一样可能与高血压发生、发展密切相关;ACE寡核苷酸基因芯片技术实现了对ACE基因的多个SNPs多态性位点的同步检测,方法简单、操作方便。
Objective To understand the association between single nucleotide polymorphisms (SNPs) of angiotensin converting enzyme (ACE) and hypertension. Methods An oligonucleotide array chip based on the principle of PCR SSOP was developed to detect multiple SNPs of ACE gene (C5467T, A9596G, A11860G, 287bpI / D), and the chip was used to determine the polymorphism of ACE gene in 50 healthy subjects and 80 hypertensive patients. Results The genotype distribution of ACE gene A11860G in hypertensive patients was (AA: 24; AG: 10; GG: 46), which was significantly higher than that in healthy subjects (AA: 15; AG: 18; GG: 17) (Χ2 = 11 39, P <0.01). The genotype distribution of ACE gene I / D in hypertensive patients was (II: 37; ID: 12; DD: 31) There was no significant difference in genotype distribution between C5467T and A9596G in the two groups (χ2 = 12 87, P <0.01) significance. Conclusion The ACE gene A11860G may be closely related to the occurrence and development of hypertension, like I / D. The ACE oligonucleotide microarray technology enables the simultaneous detection of multiple SNPs of ACE gene. The method is simple and easy to operate .