CAJ | 학술논문

目的采用三条引物法进行血管紧张素转换酶(ACE)基因分型检测，并与Rigat法进行比较，以探讨Rigat造成DD型分型的错判率,并用此方法检测了中国汉族人群中ACE基因I/D 基因型的分布频率以及插入（I）/缺失（D）多态性与高血压病（EH）间的相关性。方法 EH患者（EH组）206例，用上述两种方法进行ACE基因分型；正常血压组（NT组）156例以及核心家系25个共118例，三条引物法进行ACE基因分型。结果 EH组Rigat法得出的DD型比例较三条引物法高。与三条引物法相比较，Rigat法对DD型的错判率为13.04%。用三条引物法进行基因分型的结果如下：（1）在NT组，ACE各基因型的分布频率为：II型0.51，ID型0.41，DD 型0.08。等位基因频率为： I 0.71，D 0.29。（2）25个EH家系所有成员的基因分型结果，完全符合孟德尔遗传规律。（3）EH与NT两组间基因型和等位基因频率无显著性差异。结论三条引物法1次完成ACE基因分型，有良好的特异性、准确性和重复性。
목적채용삼조인물법진행혈관긴장소전환매(ACE)기인분형검측，병여Rigat법진행비교，이탐토Rigat조성DD형분형적착판솔,병용차방법검측료중국한족인군중ACE기인I/D 기인형적분포빈솔이급삽입（I）/결실（D）다태성여고혈압병（EH）간적상관성。방법 EH환자（EH조）206례，용상술량충방법진행ACE기인분형；정상혈압조（NT조）156례이급핵심가계25개공118례，삼조인물법진행ACE기인분형。결과 EH조Rigat법득출적DD형비례교삼조인물법고。여삼조인물법상비교，Rigat법대DD형적착판솔위13.04%。용삼조인물법진행기인분형적결과여하：（1）재NT조，ACE각기인형적분포빈솔위：II형0.51，ID형0.41，DD 형0.08。등위기인빈솔위： I 0.71，D 0.29。（2）25개EH가계소유성원적기인분형결과，완전부합맹덕이유전규률。（3）EH여NT량조간기인형화등위기인빈솔무현저성차이。결론삼조인물법1차완성ACE기인분형，유량호적특이성、준학성화중복성。
Objective There is insertion/deletion(I/D) polymorphism in human ang iotensin Iconverting enzyme (ACE) gene. The standard method developed by Rigat might sometimes mistype ID heterozygotes as DD homozygotes. The purpose of this study was to determine the mistyping rate of DD genotype by Rigat method compar ed with triple primer method, the distribution of ACE genotypes in Chinese, and the association of the ACE gene I/D polymorphism with essential hypertension. Methods206 patients with essential hypertension were genotyped by both Rigat metho d and triple primer method, 156 normotensive subjects and 25 nuclear families in cluding 118 individuals were genotyped by triple primer method only.Results 1. The frequencies of DD genotype and D allele detected by Rigat method in 206 e ssential hypertensives were higher than that detected by triple primer method. W hen 23 DD individuals genotyped by Rigat method were retyped using triple prime r method, 3 of them (13.04%) were retyped as ID. 2. The frequencies of II, ID an d DD genotypes in 156 normotensives were 51%, 41% and 8%, respectively. The freq uencies of I and D alleles were 71% and 29%, respectively. 3. In 25 nuclear fami lies, the ACE I/D polymorphism detected were wellaccordant with Mendelian inhe ritance. 4. There was no significant difference in frequencies of both genotype s and alleles between hypertensive group and normotensive group. Conclusion Triple primer method could be specifically and accurately used to detect the ACE I/D polymorphism.