KIR And HLA Haplotype Analysis in a Family Lacking The KIR 2DL1-2DP1 Genes
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 pseudo...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Sciendo
2015-06-01
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| Series: | Balkan Journal of Medical Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1515/bjmg-2015-0006 |
| _version_ | 1797760904774811648 |
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| author | Vojvodić Svetlana Ademović-Sazdanić D. |
| author_facet | Vojvodić Svetlana Ademović-Sazdanić D. |
| author_sort | Vojvodić Svetlana |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T19:05:17Z |
| format | Article |
| id | doaj.art-69fc68bbbd0745bda9bb74c1120e260b |
| institution | Directory Open Access Journal |
| issn | 1311-0160 |
| language | English |
| last_indexed | 2024-03-12T19:05:17Z |
| publishDate | 2015-06-01 |
| publisher | Sciendo |
| record_format | Article |
| series | Balkan Journal of Medical Genetics |
| spelling | doaj.art-69fc68bbbd0745bda9bb74c1120e260b2023-08-02T06:19:02ZengSciendoBalkan Journal of Medical Genetics1311-01602015-06-01181556410.1515/bjmg-2015-0006bjmg-2015-0006KIR And HLA Haplotype Analysis in a Family Lacking The KIR 2DL1-2DP1 GenesVojvodić Svetlana0Ademović-Sazdanić D.1Institute 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: +381-21-4877-978Tissue Typing Compartment, Institute for Blood Transfusion of Vojvodina, Novi Sad, SerbiaThe 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.https://doi.org/10.1515/bjmg-2015-0006human leukocyte antigen (hla) and killer cell immunoglobin-like receptor (kir) polymorphismnatural killer (nk) cells |
| spellingShingle | Vojvodić Svetlana Ademović-Sazdanić D. KIR And HLA Haplotype Analysis in a Family Lacking The KIR 2DL1-2DP1 Genes Balkan Journal of Medical Genetics human leukocyte antigen (hla) and killer cell immunoglobin-like receptor (kir) polymorphism natural killer (nk) cells |
| title | KIR And HLA Haplotype Analysis in a Family Lacking The KIR 2DL1-2DP1 Genes |
| title_full | KIR And HLA Haplotype Analysis in a Family Lacking The KIR 2DL1-2DP1 Genes |
| title_fullStr | KIR And HLA Haplotype Analysis in a Family Lacking The KIR 2DL1-2DP1 Genes |
| title_full_unstemmed | KIR And HLA Haplotype Analysis in a Family Lacking The KIR 2DL1-2DP1 Genes |
| title_short | KIR And HLA Haplotype Analysis in a Family Lacking The KIR 2DL1-2DP1 Genes |
| title_sort | kir and hla haplotype analysis in a family lacking the kir 2dl1 2dp1 genes |
| topic | human leukocyte antigen (hla) and killer cell immunoglobin-like receptor (kir) polymorphism natural killer (nk) cells |
| url | https://doi.org/10.1515/bjmg-2015-0006 |
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