HLA‐A, HLA‐B, HLA‐DRB1 allele and haplotype frequencies of 14 529 Chinese Han bone marrow donors living in Dalian, China
Summary We investigated the allele and haplotype frequencies of HLA‐A, HLA‐B and HLA‐DRB1 loci in Dalian Chinese Han population using blood samples of unrelated marrow donors who live in Dalian. The genetic relationship between Dalian and different regions worldwide was further explored based on HLA status of different populations. A total of 14 529 samples were genotyped at 2‐digit level only by sequence‐specific oligonucleotide and sequence‐based typing methods. Allele frequencies of HLA‐A, HLA‐B and HLA‐DRB1 were calculated by the direct counting method. Haplotype frequencies and linkage disequilibriu...
Source: International Journal of Immunogenetics - February 5, 2016 Category: Genetics & Stem Cells Authors: L. N. Shao, S. T. Zhang, W. J. Yu, S. H. Zhou, Y. Duan, L. Z. Pan, N. Wang, Y. Hu Tags: Original Article Source Type: research

The role of gene polymorphism in HLA class I splicing
Summary Among the large number of human leucocyte antigen (HLA) alleles, only a few have been identified with a nucleotide polymorphism impairing correct splicing. Those alleles show aberrant expression levels, due to either a direct effect of the polymorphism on the normal splice site or to the creation of an alternative splice site. Furthermore, in several studies, the presence of alternatively spliced HLA transcripts co‐expressed with the mature spliced transcripts was reported. We evaluated the splice site sequences of all known HLA class I alleles and found that, beside the consensus GT and AG sequences at the intro...
Source: International Journal of Immunogenetics - February 1, 2016 Category: Genetics & Stem Cells Authors: C. E. M. Voorter, K. E. H. Gerritsen, M. Groeneweg, L. Wieten, M. G. J. Tilanus Tags: Review Source Type: research

HLA‐A, ‐B and ‐DRB1 allele and haplotype frequencies of 8333 Chinese Han from the Zhejiang province, China
In this study, HLA‐A, ‐B and ‐DRB1 allele and haplotype frequencies were determined in 8333 volunteer bone marrow donors of Zhejiang Han population using the polymerase chain reaction sequence‐based typing. A total of 52 HLA‐A, 96 HLA‐B and 61 HLA‐DRB1 alleles were found. Of these, the top three frequent alleles in HLA‐A, HLA‐B and HLA‐DRB1 loci, respectively, were A*11:01 (24.53%), A*24:02 (17.35%), A*02:01 (11.58%); B*40:01 (15.67%), B*46:01 (11.87%), B*58:01 (9.05%); DRB1*09:01 (17.54%),DRB1*12:02 (9.64%) and DRB1*08:03 (8.65%). A total of 171 A‐B‐DRB1 haplotypes with a frequency of >0.1% were...
Source: International Journal of Immunogenetics - February 1, 2016 Category: Genetics & Stem Cells Authors: Y. He, W. Zhang, N. Chen, W. Wang, J. He, Z. Han, S. Tao, L. Dong, J. He, F. Zhu, H. Lv Tags: Original Article Source Type: research

Nomenclature for factors of the HLA system, update October 2015
(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - February 1, 2016 Category: Genetics & Stem Cells Authors: S. G. E. Marsh Tags: Nomenclature Source Type: research

Characterization of a new HLA‐A allele, HLA‐A*02:07:08, by cloning and sequencing
In this report, we present a novel HLA‐A*02:07 allele, HLA‐A*02:07:08. HLA‐A*02:07:08 was identified in an individual of Han ethnicity in Hunan province, southern China. Following polymerase chain reaction‐sequence‐based typing (PCR‐SBT), this new allele was further confirmed by cloning and sequencing. HLA‐A*02:07:08 differs from HLA‐A*02:07:01 by a single synonymous C to T substitution at nucleotide position 131 in exon 3. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - February 1, 2016 Category: Genetics & Stem Cells Authors: W. Y. Wang, W. Zhang, L. X. Li, F. M. Zhu, W. Tian Tags: Short Communication Source Type: research

Single nucleotide polymorphisms of TNFAIP3 are associated with systemic lupus erythematosus in Han Chinese population
In conclusion, our data suggest that TNFAIP3 is a susceptible gene for SLE in the Han Chinese population. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - February 1, 2016 Category: Genetics & Stem Cells Authors: J.‐W. Han, Y. Wang, H.‐B. Li, C. Alateng, Y.‐H. Bai, Z.‐Q. Sun, X.‐X. Lv, R.‐N. Wu Tags: Original Article Source Type: research

Three new HLA class II alleles: DRB1*08:70, DQA1*01:13 and DQA1*03:01:03
Summary Three novel HLA class II alleles, DRB1*08:70, DQA1*01:13 and DQA1*03:01:03, were characterized. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - January 14, 2016 Category: Genetics & Stem Cells Authors: A. Balas, D. Planelles, F. García‐Sánchez, C. Prior, J. L. Vicario Tags: Short Communication Source Type: research

Further diversity of the 5′ promoter region of the MHC class I‐related chain B gene
Summary We have now found a total of 15 individual MICB promoter sequences, varying by combination of 18 polymorphic positions within the MICB minimal promoter sequence. Sequence‐based typing and cloning characterized the three new 5′ promoter sequences as MICB‐P13, MICB‐P14 and MICB‐P15. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - December 1, 2015 Category: Genetics & Stem Cells Authors: R. Laza‐Briviesca, H. Pearson, A. Saudemont, J. A. Madrigal, S. T. Cox Tags: Short Communication Source Type: research

Molecular characterization of classical and nonclassical MHC class I genes from the golden pheasant (Chrysolophus pictus)
Summary Classical major histocompatibility complex (MHC) class I allelic polymorphism is essential for competent antigen presentation. To improve the genotyping efforts in the golden pheasant, it is necessary to differentiate more accurately between classical and nonclassical class I molecules. In our study, all MHC class I genes were isolated from one golden pheasant based on two overlapping PCR amplifications. In total, six full‐length class I nucleotide sequences (A–F) were identified, and four were novel. Two (A and C) belonged to the IA1 gene, two (B and D) were alleles derived from the IA2 gene through transgene ...
Source: International Journal of Immunogenetics - December 1, 2015 Category: Genetics & Stem Cells Authors: Q.‐Q. Zeng, G.‐H. Zhong, K. He, D.‐D. Sun, Q.‐H. Wan Tags: Original Article Source Type: research

Association of the HLA‐G 3′UTR polymorphisms with colorectal cancer in Italy: a first insight
This study aimed to explore functional and regulatory polymorphisms and haplotypes at the HLA‐G 3′UTR region in colorectal cancer development. The presence of nonpolymorphic variants was also evaluated. Three‐hundred and eight patients with colorectal cancer and 294 healthy controls were analysed at the germinal level. We found an association with increased risk of colorectal cancer for +2960 14‐bp INDEL, +3196 C>G SNPs and UTR‐2 haplotype, and a ‘protective’ role for +3003 T>C, +3010 C>G polymorphisms and UTR‐4 haplotype. We detected in 3 distinct patients, a novel nucleotide change (+3037 C>A)...
Source: International Journal of Immunogenetics - December 1, 2015 Category: Genetics & Stem Cells Authors: M. Garziera, E. Catamo, S. Crovella, M. Montico, E. Cecchin, S. Lonardi, E. Mini, S. Nobili, L. Romanato, G. Toffoli Tags: Short Communication Source Type: research

Immunogenetics of three novel HLA‐Class II alleles: DRB1*03:112, DQB1*03:02:16 and DQB1*03:139
Summary Three novel HLA‐Class II alleles, DRB1*03:112, DQB1*03:02:16 and DQB1*03:139, are described with predicted bearing haplotypes of A*02:01, B*40:01, C*03:04, DRB1*03:112, DQB1*02:01; A*23:01, B*15:01, C*03:03, DRB1*04:01, DQB1*03:02:16 and A*01:01, B*44:02, C*05:01/03, DRB1*04:01, DQB1*03:139. Serological tests showed that the DRB1*03:112 and DQB1*03:139 specificities failed to react as expected with some well‐documented monoclonal antibodies. Subsequent examination of published HLA‐Class II epitopes and inspection of amino acid motifs suggested that epitopes exist that include the positions of their single su...
Source: International Journal of Immunogenetics - December 1, 2015 Category: Genetics & Stem Cells Authors: J. Street, J. Johnson, A. J. Lemin, C. Harvey, C. Darke Tags: Original Article Source Type: research

A case of maternal–foetal chimerism identified during routine histocompatibility testing for hematopoietic stem cell transplantation
This report describes a case of maternal‐foetal chimerism identified in a boy diagnosed with SCID, who underwent HLA testing in preparation for HSCT. The first analysis was carried out on DNA from peripheral blood and included HLA‐A, HLA‐B, HLA‐DRB1 typing using PCR‐SSO. The patient's HLA‐B typing results were noninterpretable. All samples were re‐typed for HLA‐B using PCR‐SSP, again resulting in noninterpretable typing of patient's HLA‐B. In both cases, several weak positive probes/reactions interfered with the interpretation when using commercial software. Next round of HLA typing, using PCR‐SSP and...
Source: International Journal of Immunogenetics - December 1, 2015 Category: Genetics & Stem Cells Authors: Z. Grubic, K. Stingl Jankovic, J. Kelecic, D. Batinic, K. Dubravcic, R. Zunec Tags: Original Article Source Type: research

HLA‐DRB1 gene polymorphisms and its associations with rheumatoid arthritis in Chinese Han women of Shaanxi province, northwest of China
This study was designed to investigate the associations between HLA‐DRB1 gene polymorphisms and RA in the Chinese Han population of Shaanxi province, northwest of China. In total, we identified 31 high‐resolution HLA‐DRB1 alleles in 109 patients with RA. Compared with the controls, the AF of HLA‐DRB1*04:05 (P = 0.000, Pc = 0.007, OR = 3.462, 95%CI: 1.749–6.852) was significantly higher in patients with RA. In addition, the patients with RA had higher allele frequency (AF) of the HLA‐DRB1*04:03 (P = 0.030, Pc = NS, OR = 4.737, 95%CI: 1.012–22.180); DRB1*04:06 (P = 0.018, Pc = NS, OR = 5.288, 95...
Source: International Journal of Immunogenetics - December 1, 2015 Category: Genetics & Stem Cells Authors: J. Wang, H. Zhang, G.‐Q. Wang, Y. Quan Tags: Original Article Source Type: research

Polymorphisms of ST2‐IL18R1‐IL18RAP gene cluster: a new risk for autoimmune thyroid diseases
In this study, we investigated whether polymorphisms of IL33, ST2, IL18R1, and IL18RAP are associated with Graves' disease (GD) and Hashimoto's thyroiditis (HT), two major forms of AITD, among a Chinese population. A total of 11 SNPs were explored in a case–control study including 417 patients with GD, 250 HT patients and 301 controls, including rs1929992, rs10975519, rs10208293, rs6543116, rs1041973, rs3732127, rs11465597, rs1035130, rs2293225, rs1035127, rs917997 of IL 33, ST2‐IL18R1‐IL18RAP gene cluster. Genotyping of these SNPs was performed using matrix‐assisted laser desorption / ionization–time‐of‐flig...
Source: International Journal of Immunogenetics - November 15, 2015 Category: Genetics & Stem Cells Authors: X. Wang, Y. F. Zhu, D. M. Li, Q. Qin, Q. Wang, F. S. Muhali, W. J. Jiang, J. A. Zhang Tags: Original Article Source Type: research

Nomenclature for factors of the HLA system, update August 2015
(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - November 6, 2015 Category: Genetics & Stem Cells Authors: S. G. E. Marsh Tags: Nomenclature Source Type: research