title: An alternative method for genotyping of the ACE I/D polymorphism.
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.
authors.affiliation: Department of Animal Science and Center for Integrated Animal Genomics, Iowa State University, 2255 Kildee Hall, Ames, IA 50011, USA. kim@iastate.edu
authors.forename: Kimberly L
authors.initials: KL
authors.lastname: Glenn
authors.forename: Zhi-Qiang
authors.initials: ZQ
authors.lastname: Du
authors.forename: Joey C
authors.initials: JC
authors.lastname: Eisenmann
authors.forename: Max F
authors.initials: MF
authors.lastname: Rothschild
mesh_terms: D005838:Genotype; D006801:Humans; D008722:Methods; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D044465:White People / Q000235:genetics
chemical_list: D007703:Peptidyl-Dipeptidase A