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Kai Wang, Xiao-Feng Li, Xu Zhang, Feng-Qiu Lin, Jian-Ping Li
HLA-A*24:198 has one nucleotide change from HLA-A*24:02:01 where Aspartic Acid (29) is changed to Asparagine.
July 21, 2017: HLA
M Alarifi, F Al-Amro, A Alalwan, A Al-Turki, H Fakhoury, N Atallah, M Al Muallimi, M Al-Balwi, M ALzahrani, A Alaskar, A Hajeer, D Jawdat
CCR5 is a chemokine receptor that also was found to be used by HIV as a co-receptor for entering target cells. A 32 bp deletion was described in certain people that rendered CCR5 non-functional. The mutant allele CCR5-Δ32 has been shown to prevent HIV infection. In addition, stem cell transplantation with the CCR5-Δ32 homozygous genotype can lead to clearance of HIV infection. In this study, our aim was to investigate the frequency of CCR5-Δ32 mutation in a cohort of stem cell donors from cord blood bank and stem cell donor registry...
July 21, 2017: HLA
M C F da Silva-Malta, P S Rodrigues, L W Zuccherato, F C B de Souza, E M F L Domingues, V R Souza, E Tarazona-Santos, M L Martins
Hematopoietic stem-cell transplantation (HSCT) is currently the only established curative treatment for sickle cell disease (SCD), but is limited by donor availability. Ethnicity is thought to have an impact on the complications experienced by patients that undergo HSCT and on the likelihood of identifying an HLA matched donor. In the present study, we investigated the genomic ancestry and the distribution of HLA allele groups in Brazilian patients with SCD, compared these HLA profiles to worldwide populations and evaluate the availability of HLA-matched donors...
July 21, 2017: HLA
K L Yang, P Y Lin
Two nucleotide replacements within HLA-B*40:01:01 result in the novel allele, HLA-B*40:01:45.
July 20, 2017: HLA
W N Campos, J D Massaro, A L C Martinelli, J A Halliwell, S G E Marsh, C T Mendes-Junior, E A Donadi
The HFE molecule controls iron uptake from gut, and defects in the molecule have been associated with iron overload, particularly in hereditary hemochromatosis. The HFE gene including both coding and boundary intronic regions were sequenced in 304 Brazilian individuals, encompassing healthy individuals and patients exhibiting hereditary or acquired iron overload. Six sites of variation were detected: i) H63D C > G in exon 2, ii) IVS2 (+4) T > C in intron 2, iii) a C > G transversion in intron 3, iv) C282Y G > A in exon 4, v) IVS4 (-44) T > C in intron 4, and vi) a new Guanine deletion (G > del) in intron 5, which were used for haplotype inference...
July 20, 2017: HLA
K L Yang, P Y Lin
One nucleotide replacement at residue 728 of HLA-A*02:03:01 results in a new allele, HLA-A*02:684.
July 20, 2017: HLA
Y Park, H Kim, J Im, C E Yoon, H S Kim
The HLA-C*02:02:33 allele differs by a single nucleotide at codon 215 compared with HLA-C*02:02:02:01.
July 20, 2017: HLA
X D Mo, J Wang, T Zhang
One nucleotide substitution at position 276 of HLA-B*52:01:01 results in a novel allele, HLA-B*52:70.
July 20, 2017: HLA
Y Park, B G Park, J Im, C E Yoon, H S Kim
The HLA-C*14:02:01:03 differs by a single nucleotide at intron 5 (2157 C>T) compared with C*14:02:01:01.
July 18, 2017: HLA
Z Li, H-Y Zou, D Zhou
The full-length sequence of HLA- B*59:01:01:01. The HLA genes are understood to be the most polymorphic in the human genome. According to the IPD-IMGT/HLA Database (release 3.27.0 2017-01), a total of 4,647 HLA-B alleles have been identified to date (1). However, members of the B*59 gene family are scarce and have only 10 alleles.
July 18, 2017: HLA
H A Fakhoury, M Alzahrani, A S Alaskar, A H Hajeer
HLA-DQB1*06:123 differs from HLA-DQB1*06:29 by six nucleotide substitutions resulting in five amino acid changes.
July 18, 2017: HLA
Hui-Lin Lee, Sheng-Kai Lai, Pei-Lung Chen, Chen-Chung Chu
The HLA-B*40:238 allele has one non-synonymous transversion from HLA-B*40:01:01 at nucleotide position 484. The HLA-B*40:238 allele was found in an association study between HLA and antithyroid drug-induced agranulocytosis (1) . The allele, initially genotyped in a Graves' disease patient showed one mismatched nucleotide within the combined sequence pattern of B*40:01:01 and B*13:01:01 using SeCore HLA Sequence-based typing kit (Life Technologies Corporation, WI, USA). To determine which allele the mismatch belonged to, polymerase chain reaction (PCR) was carried out to amplify exon 2 to exon 4 of the HLA-B region with dimorphic forward primers as described by Cereb et al (2) ...
July 17, 2017: HLA
J W Zheng, J H Xie, Y Sun, Y Q Jiang, D Xiang
The HLA-DQB1*03:73 allele differs from DQB1*03:01:01:01 by 1 nucleotide substitution at position 209.
July 14, 2017: HLA
Y Park, J Im, C E Yoon, H S Kim
The HLA-C*01:135 allele differs by a single nucleotide at codon 265 compared with HLA-C*01:02:01:01.
July 14, 2017: HLA
A Cavalcanti, R Almeida, Z Mesquita, A L B P Duarte, E A Donadi, N Lucena-Silva
Human leukocyte antigen-G (HLA-G) presents inhibitory functions in immune cells and is located in a chromosomal region associated with systemic lupus erythematosus (SLE) susceptibility. Polymorphisms in 3' untranslated region (3'UTR) of HLA-G gene may influence protein expression. To date, no study analyzing HLA-G polymorphism and expression in childhood-onset systemic lupus erythematosus (cSLE) has been conducted. Therefore, we investigated the influence of HLA-G 3'UTR polymorphisms in 50 cSLE patients and 144 healthy controls...
July 11, 2017: HLA
E K K Henriksen, M K Viken, M Wittig, K Holm, T Folseraas, S Mucha, E Melum, J R Hov, K N Lazaridis, B D Juran, O Chazouillères, M Färkkilä, D N Gotthardt, P Invernizzi, M Carbone, G M Hirschfield, S M Rushbrook, E Goode, C Y Ponsioen, R K Weersma, B Eksteen, K K Yimam, S C Gordon, D Goldberg, L Yu, C L Bowlus, A Franke, B A Lie, T H Karlsen
Primary sclerosing cholangitis (PSC) is strongly associated with several human leukocyte antigen (HLA) haplotypes. Due to extensive linkage disequilibrium and multiple polymorphic candidate genes in the HLA complex, identifying the alleles responsible for these associations has proven difficult. We aimed to evaluate whether studying populations of admixed or non-European descent could help in defining the causative HLA alleles. When assessing haplotypes carrying HLA-DRB1*13:01 (hypothesized to specifically increase the susceptibility to chronic cholangitis), we observed that every haplotype in the Scandinavian PSC population carried HLA-DQB1*06:03...
July 11, 2017: HLA
B Liu, J Lv, Z Ma
The novel HLA-B*07:294 allele differs from the closest matching allele, HLA-B*07:02:01 by 1 nucleotide substitution.
July 9, 2017: HLA
X Zhang, X-F Li, F-Q Lin, K-L Zhang, J-P Li
HLA-A*30:62 has one nucleotide change from HLA-A*30:01:01 where 311 Threonine (ACC) is changed to Asparagine (AAC).
July 9, 2017: HLA
F-Q Lin, X-F Li, X Zhang, K-L Zhang, J-P Li
HLA-A*02:315 differs from A*02:03:01 by one nucleotide change at position 241 from C to T.
July 9, 2017: HLA
K M Kim, O J Han, M S Kang, J Y Huh
A*02:687 showed one nucleotide difference with A*02:01:01:01 resulting in an amino acid change. HLA-A is the second most polymorphic HLA class I gene, with more than 3,900 alleles having been identified according to the IPD-IMGT/HLA Database (Release 3.28.0, April 2017). (1) In particular, HLA-A*02 is a very common allotype in the Korean population with a frequency of 28.50%.(2) In the Korean population, 11 A*02 alleles have been reported, and A*02:01 is the most frequent.(2-5) Here, we report a newly identified A*02:687, a variant of A*02:01:01:01 allele, that was detected in a cord blood unit donated by a Korean woman...
July 7, 2017: HLA
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