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Fu-Tien Chiang, Kwan-Lih Hsu, Wei-Ming Chen, Chuen-Den Tseng, Yung-Zu Tseng, Determination of Angiotensin-Converting Enzyme Gene Polymorphisms: Stepdown PCR Increases Detection of Heterozygotes, Clinical Chemistry, Volume 44, Issue 6, 1 June 1998, Pages 1353–1356, https://doi.org/10.1093/clinchem/44.6.1353
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The angiotensin-converting enzyme (ACE) gene product plays an important role in cardiovascular homeostasis. An insertion/deletion (I/D) polymorphism in intron 16 of the ACE gene, with insertion polymorphism containing three more Alu-repeat sequences, was reported to be a determining factor of the plasma ACE concentration, and the D polymorphism has been found to be associated with certain cardiovascular diseases (1)(2)(3)(4)(5). Controversy exists, however, regarding the strength of the association. The diversity of conclusions has been attributed to methodological and technical variations in detection of the polymorphisms (6)(7). The preferential amplification of the D allele of the ACE gene by the PCR reported by Rigat et al. (8) was thought to be one cause. This PCR method occasionally mistyped ID heterozygotes as DD homozygotes (9). The probability of this mistyping has been estimated to be ∼5–10% (6)(7). A confirmatory PCR method, which requires an additional third PCR primer inside the Alu sequence of the I allele, was proposed to minimize the mistyping of the I allele as a D allele (9). Although this PCR technique was reported to be 100% in the typing of ACE gene polymorphisms, problems with the preferential amplification of multiplexed PCR are not entirely excluded with this method (10)(11).
