KIR AND HLA HAPLOTYPE ANALYSIS IN A FAMILY LACKING THE KIR 2DL1-2DP1 GENES
Vojvodić S, Ademović-Sazdanić D
*Corresponding Author: Associate Professor Svetlana Vojvodić, Institute for Blood Transfusion of Vojvodina, Tissue Typing Compartment, Medical Faculty of the University of Novi Sad, Hajduk Veljkova 9a, 21000 Novi Sad, Serbia; Tel: +381-21-4877-963, Fax: +381-21-4877-978; E-mail: svetlana.vojvodic021@gmail.com
page: 55

DISCUSSION

The KIR gene content and alleles vary across individual genomes and populations. The KIR genes are variable in gene content and type, which results in different KIR haplotypes, therefore, they can be used to discriminate individuals and populations from different regions or ethnic groups [8,10,13]. Several studies have verified the KIR diversity in different populations [15-24] and analyzed the genetic relationships among populations from different geographical areas and answered questions regarding ethnic origins [25-27]. The KIR diversity is observed as presence/absence of genes, resulting in expansion and contraction of KIR haplotypes [21,28,29], and further diversity is provided by allelic variation of individual KIR genes. Our results indicate that KIR genotype frequencies described in the parents and offspring of the family have a specific structure: father (M.A.) has Cen-B2/Cen-B2 and Tel-B1/Tel-B1 genotype, mother (M.Z.) has Cen-B2/Cen-B2 and Tel-A1/Tel-A1 and the offspring all have Cen-B2/Cen-B2 and Tel-A1/ Tel-B1 genotypes. All healthy members of the family have the “best” B KIR gene content, including the grandmothers and grandfather of the patient [30]. The KIR genotypes existing in the maternal grandfather, parents and the offspring of described familiy are rare, as there are very low frequencies of these KIR genotypes in several Caucasoid populations. Among their KIR genotypes, the grandfather’s and mother’s genotype (Cen-B2/Tel-A1) is the most frequent (around 6.0% Caucasoids possess it), father’s genotype (Cen-B2/Tel-B1) is present in 2.9% Caucasoids, while the genotypes present in the offspring (Cen-B2/ Tel-B1 and Cen-B2/Tel-A1) is very rare, up to 1.0% of Caucasoids possess these rare genotypes. Similar to the previous observation, absence of the 2DP1 and 2DL1 KIR genes is very rare, as the frequencies of these genes range from 87.0% in Belgium to 100.0% in Finland for 2DL1 and from 89.0% in Portugal to 99.0% in Belgium for 2DP1 [31]. Additionally, the KIR gene segregation analysis is interesting in the studied family as all three children should have the 3DS1 gene from the father’s haplotype (Tel-B1 part), but due to occurrence of some of the possible mechanisms: gene duplication, hybridization by assymetrical recombination or intergenic/ interlineage recombination during meiosis, we assumed that the present 3DL1 gene is a variant of the 3DS1 gene and 3DS1 allele segregated as 3DL1.As Norman et al.[32,33] described, the explanation for the existence of 3DL1*009, present in the offspring (according to the results of verification PCR-SSP genotyping), is that this allele is formed by conversion between 3DL1*001 and 3DS1*01301, resulting in a new haplotype with the 3DL1 gene instead of 3DS1. This is the proof that these genes behave as two alleles of the same gene. The possible explanation of the existence of such rare KIR genotypes in grandfather, parents and offspring in the family is consanguinity among their ancestors, which resulted in predominance of the Cen-B2 KIR haplotype in the family, homo-zygosity of Cen-B2/Tel-A1, present in grandfather (M.M.) and mother (M.Z.), homozygosity of Cen-B2/Tel-B1 present in father (M.A.), presence of the same HLA haplotype, A*32~B*27~C*02~DRB1*16~DQB1*05, in the maternal grandfather (M.M.), paternal grandmother (M.T.), mother (M.Z.), father (M.A.) and the patient (M.M.). The KIR and HLA segregation analysis of the studied family members was interesting for a several reasons: 1) presence of rare a KIR genotype with KIR 2DP1-2DL1 absence in grandfather and both parents and one Cen-B2 mutually shared haplotype; 2) presence of one diversive KIR haplotype in the offspring and also rare KIR genotype with absence of KIR 2DP1-2DL1 genes; 3) there is the existence of one KIR/HLA missing ligand mismatch for the KIR 3DL2 gene; 4) among all available related donors who all have the “best” B KIR gene content, the father is the most suitable donor due to the 10/10 HLA-match between him and his daughter, which is certainly less frequent than the probability of a match between siblings.



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