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
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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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