Identification of a novel HLA-DPB1 allele, DPB1*9701, by sequence-based typing

This report describes the identification of a novel DPB1 allele, DPB *9701, found in an Italian Caucasian individual. The new allele was detected by human leukocyte antigen sequence-based typing carried out to investigate the role of genetic factors in determining the outcome of hepatitis C virus infection. DPB1*9701 was identical to DPB1*0501 except for a single-nucleotide substitution at codon 43 (GGG --> TGG). This nucleotide change is a non-synonymous mutation and results in the amino acid substitution glycine (G) --> tryptophan (W). The nucleotide sequence has been deposited in GenBank under the accession number AY033075, and denominated DPB1*9701 by the official World Health Organization Nomenclature Committee.     

Identification of a novel allele, DRB1*1340, in two Brazilian individuals

We identified a novel HLA-DRB1 allele, named DRB1*1340 by the WHO HLA Nomenclature Committee, in two Brazilian individuals. Typing by polymerase chain reaction using sequence-specific oligonucleotide probes (PCR-SSOP) showed a DRB1*13 allele with an unusual hybridization pattern. DNA sequencing of both strands and comparison of the sequence with previously described DRB1 alleles revealed that the most similar allele is DRB1*1301, from which DRB1*1340 differs by a single nucleotide (T-->A) in exon 2, at position 127, codon 47 (Phe-->Tyr). The sequence received accession number AJ237964 from the EMBL database.     

Identification of a novel human DRB1*13 allele by sequence-based DRB typing

Herein, we report on a novel DRB1 allele (DRB1*1368) identified during sequence-based HLA-DRB typing. This new DRB1 allele is identical to DRB1*1301 at exon 2 except for a single-nucleotide substitution at codon 37, changing the amino acid Asn to Asp.     

Exon 2 sequence analysis of a novel HLA-DRB1 allele, DRB1*0314

We describe the identification of a new DRB1*03 variant in a Caucasian volunteer bone-marrow donor (DR'KW'). The indication for the existence of this new variant arose from contradictory results obtained by serological and several DNA typing methods (SSP, SSOP). Analysis of the exon 2 sequence revealed that the DRB1*0314 contained the characteristic DR3 specific sequence motifs, except for codon 77 (AAC-->ACC) where threonine is substituted for asparagine.     

HLA-DRB1*0301等位基因与Graves病的关系

目的 探讨HLA-DRB1*0301等位基因在粤西湛江沿海地区Graves病(GD)发病中的作用.方法 选取65例初诊GD病人和正常对照50例并采用多聚酶链反应-序列特异性引物(PCR-SSP)技术检测HLA-DRB1*0301等位基因的表达频率.结果 初诊GD病人HLA-DRBl*0301等位基因的表达频率显著高于正常对照组(P＜0.005).结论 HLA-DRB1*0301等位基因可能是粤西湛江地区GD的易感基因.     

Identification of a new allele in a Sicilian individual: HLA-DPB1*0302

Abstract:  We report here the identification and characterization of a novel human leucocyte antigen (HLA)-DPB1 allele that was subsequently named HLA-DPB1*0302 by the WHO Nomenclature Committee. HLA-DPB1*0302 was identified in a single Sicilian individual by a combination of sequence-specific primers, reverse line sequence-specific oligonucleotide probing and DNA sequencing-based typing. The DPB1*0302 allele is most similar to the DPB1*3101 allele, differing by a single mismatch at nucleotide position 301 (T to G).     

Identification of a novel HLA-DRB1*12 allele (DRB1*1210) in the Korean population

At least 11 HLA-DRB1*12 alleles have been identified to date. We report a new HLA-DRB1*12 allele, DRB1*1210, that was identified in the Korean population. This new allele differs from HLA-DRB1*120101 by a single nucleotide at position 40 (G-->A) in exon 1 that falls within codon--16 (GTT-->ATT). This change results in a single valine to isoleucine amino acid alteration.     

Characterization of a new HLA-DRB1*01 allele (HLA-DRB1*010203) in a Caucasian Italian family by using sequence-based typing

We report the identification of an HLA-DRB1*01 nucleotide sequence variant in three members of a Caucasian Italian family by using sequence-based typing. The nucleotide sequence of exon 2 observed in the new allele is identical to that of HLA-DRB1*010201 except in position 189 (codon 34) where the adenine of the consensus was replaced by a guanine and it was designated officially as HLA-DRB1*010203* by the WHO Nomenclature Committee.     

Identification of a new allele, HLA-DRB1*1360, on a DRB5 haplotype in a Brazilian individual

The application of DNA-based methods for human leukocyte antigen (HLA) genotyping has revealed an ever-increasing degree of polymorphism within the HLA-DRB loci and has resulted in the discovery of new alleles. We have identified a new DRB1 allele that was subsequently named DRB1*1360 by the WHO Nomenclature Committee. This allele is unusual for a DRB1*13 allele, as it is present on a DRB5 haplotype rather than the normal DRB3 haplotype found in association with DRB1*13 alleles.     

Identification of a novel HLA-DRB1 allele,DRB1*0108, by sequence-based DRB typing in two siblings

We report here a novel DRB1 allele identified during sequence-based HLA-DRB typing. This allele was detected during routine HLA typing of a patient and his family prior to bone marrow transplantation. The new allele, DRB1*0108, was found in the patient and in a brother. Molecular cloning and sequencing confirmed that the new DRB1 allele is identical to DRB1*0101 at exon 2 except for a single nucleotide substitution at codon 37 (TauCC-->TauAlphaC), changing the encoded serine to tyrosine. This position of the beta1 domain lies in the floor of the antigen-binding groove and shows the highest polymorphism among DRB1 alleles.     

HLA-DPB1 allele mismatches between unrelated HLA-A,B,C,DR (generic) DQA1-identical unrelated individuals with unreactive MLC

We have used a PCR-RFLP method with one generic amplification of HLA-DPB1 second exon and 6 endonucleases to differentiate the 19 HLA-DPB1 alleles and 171 heterozygous combinations. The set of primers used in our studies produced fragment sizes different from those published before (1). The HLA-DPB1 alleles in Caucasians showed a higher frequency of DPB1*0401 and DPB1*0402, when compared to a small group of Colombians who showed a higher frequency of DPB1*0402 and DPB1*0201. We found three HLA-DPB1 alleles associated with two HLA haplotypes that result from non-random association of alleles: DPB1*0401 with HLA-A26, B38, DR4, DQA1*0301 and DPB1*0101 and DPB1*0401 with HLA-A1, B8, DR3, DQA1*0501. We also report that 70% of combinations between HLA (generic A,B,C,DR) and DQA1-identical MLC-unreactive cell mixtures showed HLA-DPB1 mismatches, suggesting that HLA-DPB1 differences are not important in MLC reactivity.     

Identification of the novel allele HLA-DRB1*1137 which probably originated from DRB1*11011: implications for mismatch with its ancestor allele at bone marrow transplantation

The identification of the new allele HLA-DRB1*1137, which was found in a Caucasian individual, is described. In the sequence analysis the new allele differs from DRB1*11011 by position 227 (T>A) which is located in exon 2. At the protein level, the new allele has one amino acid difference compared to DRB1*1101 (Phe47Tyr). Residue 47 is likely to contribute to the peptide binding site of HLA-DR11 and thus to be important for peptide binding. However, as phenylalanine and tyrosine have very similar physical and chemical features allogenicity in case of mismatch at bone marrow transplantation may be weak.     

A novel HLA-DRB1 allele, DRB1*0449, with a rare point mutation found in the Han population of Guangdong China

Anovel HLA-DRB1 allele, DRB1*0449, has been identified in the Han population of Guangdong Province of China. Compared with DRB1*0406, it has only one single-nucleotide mutation from G to A at position 18 of exon 2, which causes a change in the protein sequence from valine to isoleucine at codon 11 of DR beta chain.     

A novel HLA-DRB1*120204 allele found in a Chinese individual

The HLA-DRB1*120204 allele differs by a single synonymous nucleotide change from the DRB1*120201 allele at position 203 in exon 2 from C to G.