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An alternative method for genotyping of the ACE I/D polymorphism

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Abstract

The mistyping of the angiotensin I-converting enzyme insertion/deletion (ACE I/D) has been well documented, and new methods have been suggested here to improve the genotyping efficiency. Buccal cell samples were collected from 157 young Caucasians, and genotyped using previously known and newly developed PCR amplification genotyping techniques, as well as PCR-RFLP tests for three single nucleotide polymorphisms (rs4327, rs4341 and rs4343). Inconsistent genotyping results were found when using only the PCR amplification genotyping techniques across repeated attempts (8% to 45%), however, individual SNP genotyping was highly consistent (100%). Two SNPs (rs4341 and rs4343) were in complete LD and SNP rs4327 was in high LD with the ACE I/D. The ACE I/D was in HW equilibrium in the portion of the population with consistent genotyping results, whereas the three SNPs were not in HW equilibrium. The mistyping of ACE I/D by only PCR amplification can be improved using alternative methods.

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Acknowledgments

The authors would like to thank the members of Dr. Rothschild’s lab for their assistance on this project. This work is currently supported by an American Heart Association Grant (#0665500Z) and support from the Iowa State University College of Agriculture and Life Sciences and Hatch funding.

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Correspondence to Kimberly L. Glenn.

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Glenn, K.L., Du, ZQ., Eisenmann, J.C. et al. An alternative method for genotyping of the ACE I/D polymorphism. Mol Biol Rep 36, 1305–1310 (2009). https://doi.org/10.1007/s11033-008-9313-5

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  • DOI: https://doi.org/10.1007/s11033-008-9313-5

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