PMID- 26929906
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20160301
LR  - 20200929
IS  - 1311-0160 (Print)
IS  - 2199-5761 (Electronic)
IS  - 1311-0160 (Linking)
VI  - 18
IP  - 1
DP  - 2015 Jun
TI  - KIR and HLA haplotype analysis in a family lacking the KIR 2DL1-2DP1 genes.
PG  - 55-64
LID - 10.1515/bjmg-2015-0006 [doi]
AB  - 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 immunoglobulin-like receptor low 
      resolution genotyping was performed by the polymerase chain reaction 
      (PCR)-sequence-specific 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.
FAU - Vojvodic, S
AU  - Vojvodic S
AD  - Tissue Typing Compartment, Institute for Blood Transfusion of Vojvodina, Novi 
      Sad, Serbia.
FAU - Ademovic-Sazdanic, D
AU  - Ademovic-Sazdanic D
AD  - Tissue Typing Compartment, Institute for Blood Transfusion of Vojvodina, Novi 
      Sad, Serbia.
LA  - eng
PT  - Journal Article
DEP - 20151230
PL  - Poland
TA  - Balkan J Med Genet
JT  - Balkan journal of medical genetics : BJMG
JID - 9806959
PMC - PMC4768826
OTO - NOTNLM
OT  - Human leukocyte antigen (HLA) and killer cell immunoglobin-like receptor (KIR) 
      polymorphism
OT  - natural killer (NK) cells
EDAT- 2016/03/02 06:00
MHDA- 2016/03/02 06:01
PMCR- 2015/12/30
CRDT- 2016/03/02 06:00
PHST- 2016/03/02 06:00 [entrez]
PHST- 2016/03/02 06:00 [pubmed]
PHST- 2016/03/02 06:01 [medline]
PHST- 2015/12/30 00:00 [pmc-release]
AID - bjmg-18-01-55 [pii]
AID - 10.1515/bjmg-2015-0006 [doi]
PST - epublish
SO  - Balkan J Med Genet. 2015 Dec 30;18(1):55-64. doi: 10.1515/bjmg-2015-0006. 
      eCollection 2015 Jun.