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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Abstract
The killer cell immunoglobulin-like receptor
(KIR) gene cluster exhibits extensive allelic and haplotypic
diversity that is observed as presence/absence
of genes, resulting in expansion and contraction of
KIR haplotypes and by allelic variation of individual
KIR genes. We report a case of KIR pseudogene 2DP1
and 2DL1 gene absence in members of one family
with the children suffering from acute myelogenous
leukemia (AML). Killer cell immunoglo-bulin-like
receptor low resolution genotyping was performed
by the polymerase chain reaction (PCR)-sequencespecific
primers (SSP)/sequence-specific oligonucleotide
(SSO) method and haplotype assignment was
done by gene content analysis. Both parents and the
maternal grandfather, shared the same Cen-B2 KIR
haplotype, containing KIR 3DL3, -2DS2, -2DL2 and
-3DP1 genes. The second haplotype in the KIR genotype
of the mother and grandfather was Tel-A1 with
KIR 2DL4 (normal and deleted variant), -3DL1, -22
bp deletion variant of the 2DS4 gene and -3DL2,
while the second haplotype in the KIR genotype
of the father was Tel-B1 with 2DL4 (normal variant),
-3DS1, -2DL5, -2DS5, -2DS1 and 3DL2 genes.
Haplotype analysis in all three offsprings revealed
that the children 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 a normal one. The second haplotype
of all three offspring contained KIR 2DL4, -2DL5,
-2DS1, -2DS4 (del 22bp variant), -2DS5, -3DL1 and
-3DL2 genes, which was the basis of the assumption
that there is a hybrid haplotype and that the present
3DL1 gene is a variant of the 3DS1 gene. Due to
consanguinity among the ancestors, the results of
KIR segregation analysis showed the existence of a
very rare KIR genotype in the offspring. The family
who is the subject of this case is even more interesting
because the father was 10/10 human leukocyte
antigen (HLA)-matched to his daughter, all members
of the family have the “best” donor KIR-B content
and the presence of a rare KIR genotype with KIR
2DP1-2DL1 genes absence.
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