Journal Article

Multicentric evaluation of the KIR genotypes in the Italian caucasian population

Casentini, E, Malagoli, A, Amadei, M, Testi, M, Bontadini, A, Chiesa, A, Cuccia, M C, Mariani, M, Battarra, M, Lombardo, C, Mariotti, L, Fasano, E, Frison, S, Mele, L

2005

Overview

KIRs (Killer Cell Immunoglobulin like receptors) are exposed on NK cells. Aim of the study was to define the genotypic and haplotypic structure of KIRs in the italian Caucasian population. The typing has been performed by a new PCR-SSP kit (Dynal Biotech, Pel-Freez) in a panel of 217 healthy unrelated volunteers in a multicentric evaluation of 22 laboratories. The individual gene content varied from 7 to 15 without the pseudogene evaluation and from 7 to 17 including pseudoegenes. The frame work genes 2DL4, 3DL2, 3DL3 and the pseudogene 3DP1 are found in all individuals as already described in others studies. The gene 2DS4*003 was present in 89% of the population and 2DS4*001/*002 only in 33%. The transcribed allele 2DL5A*001 was recognized in 33% while the variant not transcribed *002-*004 in 28% of the population. Sixty-five genotypes were identified in the population; the most frequent are shown in the table in according to Witt and Uhrberg models: Only 4 (1.8%) genotypes with the profile 2DL1-,2DL3-,2DL2+ were observed in the population. The remaining 22.5% genotypes are present only one or twice The frequencies of KIR genes detected in our study are comparable to other Caucasian populations, while some differences with non-caucasian population are observed.