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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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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