AI Article Synopsis
- The study focuses on the inaccuracies in genotyping the ACE I/D gene variant and proposes new methods to enhance efficiency.
- Buccal cell samples from 157 young Caucasians were analyzed using both traditional and new genotyping techniques, revealing significant inconsistencies with the PCR amplification methods (8% to 45% variation).
- Despite these inconsistencies, individual SNP genotyping was found to be highly reliable (100%) and showcased distinct patterns of linkage disequilibrium (LD) with the ACE I/D variant.
Article 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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| http://dx.doi.org/10.1007/s11033-008-9313-5 | DOI Listing |
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