Characterization of a novel HLA‐B*40 allele,HLA‐B*40:186:02, by cloning and sequencing

A novel HLA‐B*40 variant, HLA‐B*40:186:02, has been identified by cloning and sequencing in a southern Chinese Han population. Aligned with HLA‐B*40:01:01, HLA‐B*40:186:02 has a nonsynonymous cytosine mutation at nucleotide position 165 in exon 2, leading to amino acid change from glycine to arginine at codon 56. It differs from HLA‐B*40:186:01 by a synonymous change (adenine to cytosine) at position 165 in exon 2.     

A novel HLA‐B allele,HLA‐B*35:279, identified by sequencing‐based typing in a Czech patient

The identification of a novel HLA‐B*35:279 allele in a Czech patient is described. This allele is identical to the B*35:03:01 variant except the G/A nucleotide exchange at position 652 of the HLA‐B gene that corresponds to the amino acid substitution from valine to isoleucine in alpha 3 domain of the HLA‐B antigen.     

Characterization of a novel HLA‐B*39:01:01‐related allele,HLA‐B*39:130, by cloning and phasing

A novel HLA‐B*39:01:01‐related variant, HLA‐B*39:130, has been identified in a normal individual of Han ethnicity in Hunan province, southern China. Following Sanger polymerase chain reaction–sequence‐based typing (PCR‐SBT), this new allele was further confirmed by cloning, phasing and sequencing. Aligned with HLA‐B*39:01:01, HLA‐B*39:130 has a nonsynonymous thymine substitution at nucleotide position 94 in exon 4, resulting in amino acid change from threonine to isoleucine at codon 214 (ACA→ATA) of the mature HLA‐BmRNA molecule.     

Genomic full‐length sequence of a novel HLA‐A*11:01:01:02 allele was identified in a Chinese bone marrow donor

Here, we report genomic full‐length sequence of a novel HLA‐A*11:01:01:02 allele identified in a Chinese individual. HLA‐A*11:01:01:02 has three nucleotide differences from HLA‐A*11:01:01:01, including 99 C>G of intron 1, 655 C>T and G deletion in position 656 of intron 2.     

Identification of a novel HLA-B*40 allele, B*40:162, in a Chinese individual

The allele was identified in a Chinese individual by sequence-based typing. HLA-B*40:162 differs from B*40: 06:01 by a single nucleotide at position 272 C→T in exon 2.     

A novel HLA-B*40 allele, HLA-B*4083, identified in a Korean individual

HLA-B*4083 differs from the closest aligned sequence HLA-B*400601 by three nucleotide substitutions at codons 31 (ACG →ACC), 32 (CTG →CAG), and 41 (ACG → GCG), resulting in two amino acid changes at residues 32 (Leu to Gln) and 41 (Thr to Ala).     

A novel allele, HLA-A*11:01:10, identified by sequence-based typing in a Chinese individual

The novel allele human leukocyte antigen (HLA)-A*11:01: 10 differs from HLA-A*11:01:10 by a synonymous nucleotide exchange at codon 146 in exon 2 (G/A). Here, we describe the identification of the novel allele HLA-A*11:01:10, which has been detected in a registered donor of the China Marrow Donor Program. The complete HLA typing results were as follows: A*02:01, *11:01:10; B*15:11, *15:18; C*03:03, *08:01; DRB1*08:02, *15:01.     

A novel HLA-B*54 allele, B*5417, identified in a Northern Chinese Han individual

The full-length sequence of HLA-B*5417 differs from HLA-B*5401 only by single-nucleotide change at nt 709 where A→C resulting in a amino acid substitution from Ile (ATC) to Val (GTC) at codon 213 in exon 4.     

A novel HLA-B*37 allele, B*370105, was identified in a Chinese Han individual

We report here the sequence of a novel human leukocyte antigen B*37 allele, B*370105, which is identical to B*370101 except for a single nucleotide substitution in exon 3 at nucleotide 558 where C>A, codon 162 GGC>GGA, no coding change.     

A novel HLA-B*40 allele, HLA-B*40:74, detected in a Chinese individual

The HLA-B*40:74 allele has two nucleotide changes at positions 103 and 106 of exon 2 from the closest matching allele HLA-B*40:01:01.     

A novel allele, HLA-A*110203, was identified in a Chinese individual

This allele is characterized by a nucleotide substitution (C>T) in exon 4 at position nt 672, codon 200 (ACC>ACT), no coding change.     

Identification of a novel HLA-B*46 allele, B*46:01:07, in a Chinese individual

The novel allele B*46:01:07 was identified in a Chinese individual by sequence-based typing.     

A novel HLA-B allele, B*4096 was identified by sequence-based typing in a Chinese individual

A novel HLA-B allele, B*4096, has been identified in a Chinese individual by sequence-based typing, which has seven nucleotide changes from the closest matching allele B*40060101 resulting in five amino acid changes: 101Ser→Asn; 104Ser→Thr; 105Leu→Ala; 106Arg→ Leu and 107Gly→Arg.     

Characterization of a novel variant allele, HLA-C*07:01:19, identified in a Chinese Han individual

The novel HLA-C*07:01:19 allele differs from the closest allele C*07:01:01 by a single nucleotide change at coding sequence nucleotide 738 G>A (codon 222 GAG>GAA) in exon 4.     

Characterization of a novel allelic variant in HLA‐B*40 lineage,HLA‐B*40:298:02, by cloning and sequencing

A novel allelic variant in HLA‐B*40 lineage, HLA‐B*40:298:02, has been identified in an individual of Han ethnicity afflicted with nasopharyngeal carcinoma in Hunan province, southern China. Following polymerase chain reaction–Sanger sequence‐based typing (PCR–SBT), this new variant was further confirmed by two distinct strategies of cloning and sequencing. HLA‐B*40:298:02 differs from HLA‐B*40:298:01 by a single synonymous cytosine substitution at nucleotide position 26 (T→C) in exon 3, which corresponds to codon 99 of the mature HLA‐B mRNA molecule. This new allele has an estimated frequency of 0.0002, in about 2,500 sequence‐based typed subjects from the same population.     

A novel HLA-B*40 allele, B*4086, was identified by sequence-based typing in a Chinese donor

We report the identification of a novel HLA-B*40 allele, B*4086, which was detected during our routine sequence-specific oligonucleotide (SSO) HLA typing of a sample from a bone marrow donor and confirmed with sequence-based typing. The name HLA-B*4086 was officially assigned by the WHO Nomenclature Committee in February 2008.     

A novel HLA-DPA1*0204 allele was identified in a Chinese individual

We report here the identification of a novel human leukocyte antigen-DPA1*0204 allele that was detected by polymerase chain reaction sequence-based typing.     

Immunogenetics of a new HLA‐B null allele,HLA‐B*4423N

The second example of an HLA‐B*44 null allele (B*4423N) was identified by discrepancies between serological and polymerase chain reaction–sequence‐specific primer (PCR‐SSP) typing in two north‐western European Caucasoid unrelated stem cell donor volunteers. HLA‐B*4423N was identical to B*440201 except for a single nucleotide substitution at position 493 in exon 3, resulting in a premature stop codon at bases 493–495 (TAG rather than CAG at codon 141). As expected, comprehensive serological testing using 54 antisera, directed towards B44 or Bw4, failed to identify the HLA‐B44 (Bw4) specificity. The B*4423N‐bearing haplotype was identified as A*0201, Cw*0501, DRB1*0408, DRB4*01, DQA1*03, DQB1*0304 and the frequency of B*4423N estimated as 0.00006 (carriage frequency 0.0121%) in 16 533 subjects resident in Wales.     

HLA‐B allele dropout in PCR sequence‐specific oligonucleotide probe typing due to intronic polymorphism in the novel B*58:01:01:02 allele

Currently, Luminex technology based on the PCR sequence‐specific oligonucleotide (SSO) probe method has been widely used for HLA genotyping in the immunogenetics laboratories. Here, we reported a case with HLA‐B allele dropout by Luminex technology. The initial HLA‐B result of the Luminex method with a commercial agent kit was inconclusive, and then, the result of PCR‐SBT technology indicated the dropout as a HLA‐B*58 allele. Subsequently, the full‐length sequence of HLA‐B allele was determined by TOPO‐TA cloning, and a novel allele B*58:01:01:02 was identified in the individual. Compared with HLA‐B*58:01:01:01, the novel allele showed some nucleotides difference at 509 C>T, 521 T>G and CCC insertion in position 503 of intron 2. According to the full‐length sequence, the new mutations of intron 2 were contributed to HLA‐B locus allele dropout in the sample. Our results indicated multiplatform should be used to improve the HLA typing accuracy when a conclusive HLA genotype cannot be determined.     

中国人群新等位基因HLA-B*40:74的序列分析及认定

目的 序列分析及认定1例中国人群HLA新等位基因.方法 应用聚合酶链反应-序列特异性寡核苷酸探针(polymerase chain reaction-sequence specific oligonucleotide probes,PCRSSOP)基因分型方法和基于测序的分型方法(sequencing-based typing,SBT),通过软件分析该基因序列及与最相近等位基因序列的差异.结果 PCR-SSOP结果显示,该样本HLA-B位点反应格局出现异常提示;测序结果最终表明其B位点第2外显子序列与所有已知HLA-B等位基因序列均不一致,与序列最相近的等位基因B* 40:01:01,在所检测的第2、3、4外显子中的差异只是在第2外显子发生了nt103G→T,nt106A→G两个核苷酸替代,并导致相应的第35位密码子由A(丙氨酸)→S(丝氨酸),第36位密码子由M(蛋氨酸)→V(缬氨酸).结论 该基因为HLA-B新等位基因,被世界卫生组织HLA因子专用术语命名委员会正式命名为HLA-B* 40:74( HWS10004518-EF458488).