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

RESULTS

The distribution of KIR and HLA genes of the patient’s grandparents (two grandmothers and one available grandfather), is presented in Table 1. The KIR segregation analysis showed that grandfather of the patient (M.M.), appears to be homozygous for the Cen-B2/Tel-A1 KIR haplotype, and that he shares the same KIR haplotype with his wife [grandmother of the patient (M.M)] with only difference in KIR 2DL4 gene [normal KIR 2DL4 gene variant present in grandfather and deleted KIR 2DL4 gene variant present in grandmother (M.M.)]. The HLA segregation analyses point out that the maternal grandfather (M.M.) and paternal grandmother (M.T.) share the same HLA haplotype: A*32~B*27~C*02~DRB1*16~DQB1*05 (Table 1). The distribution of KIR and HLA genes of the parents in the family that is under study is given in Table 2. The HLA and KIR haplotype analysis revealed that both parents were lacking the KIR2DP1- 2DL1 genes and that they were mutually compatible in eight out of 10 HLA alleles. Table 3 shows the distribution of KIR and HLA alleles in the offspring, where it is noticeable that all three offspring also lacked the 2DP1-2DL1 genes and that the brothers were mutually 10/10 HLAmatched and both were HLA haploidentical to the patient. Additionally, the patient carries the C1/C2 HLA genotype, as she possess C*07 belonging to the C1 group and C*02, belonging to the C2 group. Also there is one KIR/HLA mismatch between the siblings and both the parents toward the patient for KIR 3DL2 gene, since patient lacks the HLA A*03 and A*11 ligands. Father is 10/10 HLA-matched to the daughter (at a low resolution typing level), while her mother is 8/10 HLA-matched donor. The analysis of familial HLA haplotypes segregation presented in Figure 1 revealed that all three children inherited the same haplotype from the father (A*02~B*41~ C*07~DRB1*03~DQB1*02), two brothers inherited the same HLA haplotype from the mother (A*24~B*08~ C*07~DRB1*03~DQB1*02) and the patient inherited the the mother’s second haplotype (A*32~B*27~C*02~ DRB1*16~DQB1*05), which explains why the brothers were mutually 10/10 HLA-matched and haploidentical compared to the patient. Figure 2 provides the KIR haplotype analysis showing that all members of the family predominantly possess Cen-B2 motifs in combination with Tel-A1 and Tel-B1, respectively, with the exception of the Cen-A1 motif, present in the paternal grandmother (M.T.). The maternal grandfather (M.M.), parents and offspring in the family carry incomplete KIR haplotypes with the 3DP1 variant allele (due to lack of 2DP1-2DL1 alleles) and that the maternal grandfather, mother and the father are homozygous for the Cen-B2 haplotype containing following KIR genes: 3DL3~2DS2~ 2DL2~ 3DP1. Also all three offspring inherited the Cen-B2 haplotype with the same gene content but two of the children inherited a deleted variant of the 2DL4 gene, while the third child inherited the normal one. All three offspring inherited the deleted variant of the 2DS4 gene from their mother and they are homozygous for the Cen-B2 haplotype and heterozygous for the Tel-A1/Tel-B1 haplotypes. At the basis of the KIR gene content present in the offspring, we assumed that there is a diversive/hybrid haplotype compared to the father’s KIR haplotype (Tel-B1 containing KIR 3DP1~2DL4~3DS1~2DL5~2DS1~3DL2), since the 3DS1 gene present in the offsprings’ KIR haplotype (KIR 3DP1~2DL4~3DL1~2DL5~2DS1~3DL2), segregated as a 3DL1 gene.



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