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DQ linkage disequilibrium of leukemia patients and their related potential donors in Chinese Han population
S64
Abstracts
98-P
HLA-DR/DQ LINKAGE DISEQUILIBRIUM OF LEUKEMIA PATIENTS AND THEIR RELATED POTENTIAL DONORS IN CHINESE HAN POPULATION. Yuying Sun, Fei Liang, Nan Liu, Li Jin, Fang Yuan, Fanhua Kong, Yongzhi Xi. Department of Immunology, Beijing 307 Hospital, Beijing, China. To investigate DR/DQ linkage disequilibrium (LD) of leukemia patients and their related potential donors in Han population to provide accurate genetic data for HLA precise matching and disease association study. DR and DQ were genotyped for 1500 samples of leukemia patients and their related potential donors, and among the samples, there were 650 patients and 850 related potential donors. 13 rare DR/DQ linkage disequilibrium patterns were discovered, and most common LD patterns were the combinations between DQ8 or DQ9 and different DR specificities. 9 DR/DQ haplotypies were newly identified, which were DR14/DQ4, DR4/DQ5, DR9/DQ6, DR9/DQ7, DR8/DQ8, DR9/DQ8, DR12/DQ8, DR13/DQ8 and DR14/DQ9. DR8/DQ8 haplotype only appeared in related potential donors and DR14/DQ4, DR12/DQ6, DR11/DQ8, DR13/DQ8 and DR14/ DQ9 haplotypes only existed in leukemia patients. The most common LD patterns associating with DR52 (DRB3) was at 58.5% (24/41) the proportion of all the rare LD patterns, and the other LD types associating to DR53(DRB4) and DR51(DRB4) were at 36.6% (15/41) and 4.9% (2/41) the proportion of all the rare LD patterns, respectively. The most popular LD type is DR12/DQ8 and DR9/DQ8 with the highest haplotypic frequencies of 0.0023, and the next popular haplotypes are DR11/DQ9 (0.0020) and DR12/DQ9 (0.0017). The absolute and relative linkage disequilibrium parameters of the rare DR/DQ haplotypes are all of negative linkage disequilibrium patterns. The rare DR/DQ LD types will replenish the LD data for Han population and may improve the accuracy of HLA class II matching, and the facts of the different DR/DQ haplotypes in different populations may provide the clue for disease association study.
99-P
KIR GENOTYPES IN TUNISIAN POPULATION. Marcela Uribe,1 Sharon Adams,1 Lotfi Chouchane,2 David Stronscek,1 Francesco Marincola.1 1DTM, HLA, National Institutes of Health, Bethesda, MD, USA; 2 Weill Cornell Medical College in Qatar. Natural Killer Cells (NK) play an important role in the innate immunological response; they discriminate between healthy and abnormal cells. Since NK cells do not have the ability to rearrange genes for antigen recognition they express a series of activatory and inhibitory receptors such as the Killer Immunoglobulin-like Receptors (KIR) located on the membrane of NK cells and encoded by a cluster of polymorphic genes. Two groups of KIR haplotypes (A and B) have been described according to gene content, group B haplotypes are characterized by the presence of one or more of the following genes: KIR2DL5, KIR2DS1, KIR2DS2,KIR2DS3, KIR2DS5 and KIR3DS1. Group A haplotypes are characterized by the absence of all these genes. Population studies indicate that both groups of haplotypes are present in all populations but distribution varies among ethnic groups. Since this information could have biological significance we performed KIR genotype on 86 healthy unrelated individuals from the middle coast of Tunisia. KIR typing was performed by low resolution SSP-PCR method. Genotype profiles were analyzed following the Uhrberg classification; out of 19 genotypes identified the most frequent are genotypes 1, 3, 2, 4, and 6 with a frequency of 33%, 26%, 11%, 8% and 7% respectively. The distribution of genotypes in terms of combination of haplotypes proves to be AA 33%, AB and BB 67%. Framework genes KIR2DL4, KIR3DL2, KIR3DL3, in addition to 2DL1 and 3DL1 were found in all individuals, table 1 summarizes the frequency of the other KIR genes in the Tunisian population. TABLE 1 2DL2 56% 2DS3 44%
2DL3 91% 2DS4*001-002 51%
2DL5A 24% 2DS4*003-007 72%
2DL5B 43% 2DS5 23%
2DS1 24% 3DS1 24%
2DS2 57%
Abstracts
98-P
HLA-DR/DQ LINKAGE DISEQUILIBRIUM OF LEUKEMIA PATIENTS AND THEIR RELATED POTENTIAL DONORS IN CHINESE HAN POPULATION. Yuying Sun, Fei Liang, Nan Liu, Li Jin, Fang Yuan, Fanhua Kong, Yongzhi Xi. Department of Immunology, Beijing 307 Hospital, Beijing, China. To investigate DR/DQ linkage disequilibrium (LD) of leukemia patients and their related potential donors in Han population to provide accurate genetic data for HLA precise matching and disease association study. DR and DQ were genotyped for 1500 samples of leukemia patients and their related potential donors, and among the samples, there were 650 patients and 850 related potential donors. 13 rare DR/DQ linkage disequilibrium patterns were discovered, and most common LD patterns were the combinations between DQ8 or DQ9 and different DR specificities. 9 DR/DQ haplotypies were newly identified, which were DR14/DQ4, DR4/DQ5, DR9/DQ6, DR9/DQ7, DR8/DQ8, DR9/DQ8, DR12/DQ8, DR13/DQ8 and DR14/DQ9. DR8/DQ8 haplotype only appeared in related potential donors and DR14/DQ4, DR12/DQ6, DR11/DQ8, DR13/DQ8 and DR14/ DQ9 haplotypes only existed in leukemia patients. The most common LD patterns associating with DR52 (DRB3) was at 58.5% (24/41) the proportion of all the rare LD patterns, and the other LD types associating to DR53(DRB4) and DR51(DRB4) were at 36.6% (15/41) and 4.9% (2/41) the proportion of all the rare LD patterns, respectively. The most popular LD type is DR12/DQ8 and DR9/DQ8 with the highest haplotypic frequencies of 0.0023, and the next popular haplotypes are DR11/DQ9 (0.0020) and DR12/DQ9 (0.0017). The absolute and relative linkage disequilibrium parameters of the rare DR/DQ haplotypes are all of negative linkage disequilibrium patterns. The rare DR/DQ LD types will replenish the LD data for Han population and may improve the accuracy of HLA class II matching, and the facts of the different DR/DQ haplotypes in different populations may provide the clue for disease association study.
99-P
KIR GENOTYPES IN TUNISIAN POPULATION. Marcela Uribe,1 Sharon Adams,1 Lotfi Chouchane,2 David Stronscek,1 Francesco Marincola.1 1DTM, HLA, National Institutes of Health, Bethesda, MD, USA; 2 Weill Cornell Medical College in Qatar. Natural Killer Cells (NK) play an important role in the innate immunological response; they discriminate between healthy and abnormal cells. Since NK cells do not have the ability to rearrange genes for antigen recognition they express a series of activatory and inhibitory receptors such as the Killer Immunoglobulin-like Receptors (KIR) located on the membrane of NK cells and encoded by a cluster of polymorphic genes. Two groups of KIR haplotypes (A and B) have been described according to gene content, group B haplotypes are characterized by the presence of one or more of the following genes: KIR2DL5, KIR2DS1, KIR2DS2,KIR2DS3, KIR2DS5 and KIR3DS1. Group A haplotypes are characterized by the absence of all these genes. Population studies indicate that both groups of haplotypes are present in all populations but distribution varies among ethnic groups. Since this information could have biological significance we performed KIR genotype on 86 healthy unrelated individuals from the middle coast of Tunisia. KIR typing was performed by low resolution SSP-PCR method. Genotype profiles were analyzed following the Uhrberg classification; out of 19 genotypes identified the most frequent are genotypes 1, 3, 2, 4, and 6 with a frequency of 33%, 26%, 11%, 8% and 7% respectively. The distribution of genotypes in terms of combination of haplotypes proves to be AA 33%, AB and BB 67%. Framework genes KIR2DL4, KIR3DL2, KIR3DL3, in addition to 2DL1 and 3DL1 were found in all individuals, table 1 summarizes the frequency of the other KIR genes in the Tunisian population. TABLE 1 2DL2 56% 2DS3 44%
2DL3 91% 2DS4*001-002 51%
2DL5A 24% 2DS4*003-007 72%
2DL5B 43% 2DS5 23%
2DS1 24% 3DS1 24%
2DS2 57%