Investigation of Deletion of 22pb in KIR2DS4 Gene in a Population of Southern Brazil

• Published in: Journal of clinical laboratory analysis Vol. 28; no. 6; pp. 440 - 445
• Main Authors: Marangon, Amanda Vansan, Visentainer, Jeane Eliete Laguila, Guelsin, Gláucia Andréia Soares, Clementino, Samaia Laface, Rudnick, Cristiane Conceição Chagas, de Melo, Fabiano Cavalcante, Braga, Marco Antonio, Sell, Ana Maria
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.11.2014; John Wiley & Sons, Inc; John Wiley and Sons Inc
• Subjects: Brazil; Genotype; Genotype & phenotype; genotyping; Humans; KIR; KIR2DS4; KIR2DS4-deleted variant; Mutation Rate; Original; Polymerase chain reaction; Polymerase Chain Reaction - methods; Population genetics; Receptors, KIR - chemistry; Receptors, KIR - genetics; Sequence Deletion; Brazil; KIR2DS4-deleted variant; KIR; KIR2DS4; genotyping
• ISSN: 0887-8013; 1098-2825
• DOI: 10.1002/jcla.21707

Background The aim of this study was to investigate the distribution of full‐length and deleted variants of KIR2DS4 in a population of southern Brazil and compare the results with other populations, as well as comparing two techniques, PCR‐SSP and PCR‐SSO, for typing of variants. Methods 258 individuals from southern Brazil were analysed by PCR‐SSO (“polymerase chain reaction‐sequence specific oligonucleotides”, One Lambda, Inc., Canoga Park, CA), of which 161 were also analysed by PCR‐SSP. Results The study population showed similarities with other Caucasian populations; 46.5% of individuals had only KIR2DS4 variants, 21.3% had the full‐length form and 25.1% had both forms. Conclusion The frequencies found in both groups (genotyped by PCR‐SSP and PCR‐SSO) were 100% concordant.