WHO Nomenclature Research Articles

The HLA dictionary 1999: a summary of HLA‐A, ‐B, ‐C, ‐DRB1/3/4/5, ‐DQB1 alleles and their association with serologically defined HLA‐A, ‐B, ‐C, ‐DR and ‐DQ antigens

This report presents serologic equivalents of 90 HLA-A, 190 HLA-B and 145 HLA-DRB1 alleles. The equivalents cover over 70% of the presently identified HLA-A, -B and -DRB1 alleles. The dictionary is an update of the one published in 1997 and now also includes equivalents for HLA-C, DRB3, DRB4, DRB5 and DQB1 alleles. The data summarize information obtained by the WHO HLA Nomenclature Committee, the International Cell Exchange (UCLA), the National Marrow Donor Program (NMDP) and by individual laboratories. In addition, a listing is provided of alleles which are expressed as antigens with serologic reaction patterns that differ from the well-established HLA specificities and that often lack official WHO nomenclature. The provided equivalents will be useful in guiding searches for unrelated donors in which patients and/or potential donors are typed by either serology or DNA-based methods. These equivalents will also serve typing and matching procedures for organ transplant programs where HLA typings from donors and from recipients on waiting lists represent mixtures of serologic and molecular typings. Some guidelines are provided for the use of appropriate WHO HLA nomenclature for serological typings and for generic and allele specific typings obtained with molecular methods. The tables with HLA equivalents and the questionnaire for submission of serology on poorly identified alleles will also be available at the WMDA web page: www:bmdw.org/wmda.

Nomenclature for factors of the HLA system, update February 1999. Marsh for the WHO Nomenclature Committee for Factors of the HLA System.

Nomenclature for factors of the HLA system, update February 1999. Marsh for the WHO Nomenclature Committee for Factors of the HLA System.

Nomenclature for factors of the HLA system, update November 1998. WHO Nomenclature Committee for Factors of the HLA System.

Nomenclature for factors of the HLA system, update November 1998. WHO Nomenclature Committee for Factors of the HLA System.

Nomenclature for factors of the HLA system, update August 1998. WHO Nomenclature Committee for Factors of the HLA system.

Nomenclature for factors of the HLA system, update August 1998. WHO Nomenclature Committee for Factors of the HLA system.

A novel PCR-based methodology to determine TAP allele frequencies in population studies.

The TAP genes have been extensively studied as candidate susceptibility genes for autoimmune and infectious diseases. TAP1 and TAP2 have two and three polymorphic sites respectively which are used for the allele assignment following WHO nomenclature. The usual techniques employed to determine the TAP alleles cannot unequivocally ascertain the alleles present in subjects which are heterozygous at more than one polymorphic position within the genes. This results in an inability to determine absolute TAP allele frequencies in population studies. The aim of this study was to devise a PCR-based method to unambiguously assign TAP alleles to all subjects. The novel method was tested in Oriental Type I diabetic and control subjects. The technique is a valuable tool for allele assignment in heterozygous subjects solely using PCR.

Compilation of distinct HLA-A, -B and -C transmembrane and cytoplasmic domain-encoding sequences.

Exons 5-8 of HLA class I genes encode the transmembrane and cytoplasmic domains of HLA class I proteins. Of the more than 300 HLA-A, -B and -C alleles recognized by the WHO Nomenclature Committee for Factors of the HLA System, the number of alleles for which exon 5-8 sequence information is available and the extent of genetic variability in this region are undocumented. Thus, a comprehensive analysis of HLA-A, -B and -C exon 5-8 sequence variability was undertaken. Of 219 HLA-A, -B and -C alleles for which exon 5-8 sequences are known, 40 unique HLA-A, -B and -C exon 5-8 sequences were identified. At the amino acid level, these encode 28 distinct HLA-A, -B and -C transmembrane and cytoplasmic domains.

Full-length cDNA nucleotide sequence of a serologically undetectable HLA-DQA1 allele: HLA-DQA1*"LA".

This study describes the characterization of a serological HLA-DQ"blank" specificity that segregates with the HLA-A2, -B7, -DR14, -DR52 haplotype. Although conventional serological typing techniques could not detect an HLA-DQ product on the haplotype positive for the HLA-DQ"blank" specificity, sequence-specific oligonucleotide (SSO) dot-blot analysis demonstrated the presence of the HLA-DQA1*01 and HLA-DQB1*05 alleles. Full-length cDNA nucleotide sequence analysis revealed that the HLA-DQB1 allele that segregated with the HLA-DQ"blank" specificity was identical to HLA-DQB1*05031. As for the HLA DQA1 allele, one nucleotide substitution distinguished the HLA-DQA1 "blank" allele from HLA-DQA1*0104. In exon 2 at nucleotide position 304 a C was substituted for a T (Arg-->Cys). Pending official recognition by the WHO Nomenclature Committee, this HLA-DQA1 "blank" allele is termed HLA-DQA1*"LA". Furthermore, it is postulated that the introduction of cysteine at amino acid position 102 abrogates the classical HLA-DQ1 specificity.

HLA-DR2 frequency increase in severe aplastic anemia patients is mainly attributed to the prevalence of DR15 subtype

The association between severe aplastic anemia (AA) and DR2 antigen seems to be well established. However, since discrimination between two DR2-associated splits, namely DR15 and DR16, rarely was performed, it remains unclear whether one or both of these subvariants are responsible for AA susceptibility. In this study, we have analyzed the HLA-DR allelic distribution in a group of 37 AA patients of slavic origin from North-Western Russia. The experimental design included PCR-based amplification of DRB-specific sequences, followed by reverse dot-blot hybridization of the biotinylated PCR-product with the set of sequence-specific oligonucleotide probes. HLA-DRB alleles were identified by non-radioactive enzymatic reaction, then standard serological specificities of HLA-DR antigen were estimated according to the WHO nomenclature. Whereas DR15 subtype occurred more often in the patients (23.0% vs. 13.3%, p< 0.05), DR16 split did not show the same tendency. The results, show the overall predominance of HLA-DR2 specificity (DR15+DR16) did not reach statistical significance (24.4% vs.17.5%, p<0.2). Thus, we conclude that repeatedly reported DR2 frequency increase in AA patients is mainly attributed to the prevalence of DR15 subtype.

Nucleotide sequence analysis of an HLA-B47 variant (HLA-B*4702).

The name B*4702 has been officially assigned by the WHO Nomenclature Committee in November 1996. This follows the agreed policy that, subject to the conditions staled in the most recent nomenclature report (1), names will be assigned to new sequences as they are identified. Lists of such names will be published in the following WHO nomenclature report. The nucleotide sequence data reported in this article will appear in E.M.B.L. under the accession number Y09118.

Nucleotide sequence of HLA-B*5505, which expresses a unique HLA class I polymorphism.

The nucleotide sequence reported in this article will appear in the GenBank database under the accession number U63653. The name HLA‐B*5505 was officially assigned by the WHO Nomenclature Committee in 1996. This follows the agreed policy that, subject to the conditions stated in the most recent nomenclature report (1), names will be assigned to new sequences as they are identified. Lists of such new names will be published in the following WHO nomenclature report.

A novel DRB1 allele (DRB1*0815) defined in an Australian Aborigine.

The nucleotide sequence reported in this paper has been submitted to GenBank and assigned the accession number U63802. The name DRB1*0815 was officially assigned by the WHO Nomenclature Committee in July 1996. This follows the agreed policy that, subject to the conditions stated in the most recent nomenclature report (10), names will be assigned to new sequences as they are identified. Lists of such new names will be published in the following WHO nomenclature report. The sequence known previously as DRB1*08Taree will now be known as DRB1*0815.

A new HLA-DQB1*0306 allele sharing motifs from DQB1*03032 and DQB1*04 sequences.

We have discovered a new HLA-DQB1 allele in a Japanese family, MAT. In the family the new allele segregates in three generations and demonstrates the positive association with DRB1*0901. We observed a novel RFLP pattern in the course of examining the modified PCR-RFLP method for HLA-DQB1 genotyping. The PCR-SSOP analysis also showed a new hybridized pattern. Sequence analysis of the allele indicates that it was generated by a gene conversion-like event between the HLADQB1*03032 and one of DQB1*04 contemporary alleles. This new allelic product did not react with all of allosera and monoclonal antibodies against DQ1, DQ2, DQ3, DQ4 and DQ7. The HLA molecule encoded by the allele is not defined by serology. This new allele was officially recognized and named DQB1*0306 by the WHO Nomenclature Committee in November 1995.

Nomenclature for factors of the HLA system, update April 1996.

International Journal of ImmunogeneticsVolume 23, Issue 4 p. 333-334 NOMENCLATURE FOR FACTORS OF THE HLA SYSTEM, UPDATE APRIL 1996* S. G. E. Marsh, Corresponding Author S. G. E. MarshSteven G. E. Marsh, Tissue Antigen Laboratory, Imperial Cancer Research Fund, 44 Lincoln's Inn Fields, London WC2A 3PX, U.K.Search for more papers by this author S. G. E. Marsh, Corresponding Author S. G. E. MarshSteven G. E. Marsh, Tissue Antigen Laboratory, Imperial Cancer Research Fund, 44 Lincoln's Inn Fields, London WC2A 3PX, U.K.Search for more papers by this author First published: August 1996 https://doi.org/10.1111/j.1744-313X.1996.tb00131.xCitations: 1 * Compiled for the WHO Nomenclature Committee for factors of the HLA system. AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article.Citing Literature Volume23, Issue4August 1996Pages 333-334 RelatedInformation

Nomenclature for factors of the HLA system, update February 1996.

International Journal of ImmunogeneticsVolume 23, Issue 4 p. 329-329 NOMENCLATURE FOR FACTORS OF THE HLA SYSTEM, UPDATE FEBRUARY 1996* S. G. E. Marsh, Corresponding Author S. G. E. MarshSteven G. E. Marsh, Tissue Antigen Laboratory, Imperial Cancer Research Fund, 44 Lincoln's Inn Fields, London WC2A 3PX, UK.Search for more papers by this author S. G. E. Marsh, Corresponding Author S. G. E. MarshSteven G. E. Marsh, Tissue Antigen Laboratory, Imperial Cancer Research Fund, 44 Lincoln's Inn Fields, London WC2A 3PX, UK.Search for more papers by this author First published: August 1996 https://doi.org/10.1111/j.1744-313X.1996.tb00129.x * Compiled for the WHO Nomenclature Committee for factors of the HLA system. AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat No abstract is available for this article. Volume23, Issue4August 1996Pages 329-329 RelatedInformation

HLA-G gene polymorphism in a Japanese population

Polymorphism of the HLA-G gene in a Japanese population was investigated employing polymerase chain reaction (PCR)-single-strand conformation polymorphism (SSCP) analysis, PCR sequence-specific oligonucleotide (SSO) analysis, and DNA direct sequencing. Nucleotide sequence variations in exons 2, 3, and 4 of the HLA-G gene in 54 healthy Japanese individuals were examined. In addition, seven Japanese samples carrying common HLA haplotypes were analyzed. In total, nine single-base substitutions compared with the sequence of G*01011 were identified: one in intron 1 (nucleotide position 970), one in exon 2 (the third base of codon 57: G --> A), three in intron 2 (1264, 1276, and 1292), three in exon 3 (the third base of codon 93: C --> T, the third base of codon 107: A --> T, and the first base of codon 110: C --> A), and one in intron 3 (2334). The substitution at codon 110 was non-synonymous and led to an amino acid substitution from leucine to isoleucine. The other three nucleotide substitutions in exons were synonymous. Through analysis of combinations of the exon 2, 3, and 4 nucleotide sequences we identified four alleles, which we provisionally designated GJ1, GJ2, GJ3, and GJ4. The allele frequencies were estimated to be 0.33, 0.16, 0.45, and 0.06, respectively. Nucleotide sequences of GJ1, GJ2, and GJ4 were identical to G*01011, the clone 7.0E, and G*01013, respectively. GJ3 was a newly observed allele and was officially designated G*0104 by the WHO Nomenclature Committee in January 1996. Strong positive associations were observed between HLA-G alleles and HLA-A, -B, or -DRB1 alleles.

Nomenclature for factors of the HLA system, update November 1995.

International Journal of ImmunogeneticsVolume 23, Issue 2 p. 157-158 NOMENCLATURE FOR FACTORS OF THE HLA SYSTEM, UPDATE NOVEMBER 1995* S. G. E. Marsh, Corresponding Author S. G. E. MarshSteven G. E. Marsh, Tissue Antigen Laboratory, Imperial Cancer Research Fund, 44 Lincoln's Inn Fields, London WC2A 3PX, U.K.Search for more papers by this author S. G. E. Marsh, Corresponding Author S. G. E. MarshSteven G. E. Marsh, Tissue Antigen Laboratory, Imperial Cancer Research Fund, 44 Lincoln's Inn Fields, London WC2A 3PX, U.K.Search for more papers by this author First published: April 1996 https://doi.org/10.1111/j.1744-313X.1996.tb00277.xCitations: 1 * Compiled for the WHO Nomenclature Committee for factors of the HLA system. AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article.Citing Literature Volume23, Issue2April 1996Pages 157-158 RelatedInformation

A novel DRβ1 ∗03 allele identified by polymerase chain reaction—Restriction fragment length polymorphism

This report describes a new MHC class II allele, HLA-DRβ1 ∗ ∗ The name DRβ1∗0306 was officially assigned by the WHO Nomenclature Committee in September 1995. This follows the agreed policy that, subject to the conditions stated in the most recent Nomenclature Report {!}, names will be assigned to new sequences as they are identified. Lists of such new names will be published in the following WHO Nomenclature Report. The nucleotide sequence data reported in this paper will appear in the EMBL, Gen Bank, and DDBJ sequence databases under the accession number X90644. 0306, discovered in a 31-year-old Norwegian male. The allele typed serologically as DRw52 (DR3) and amplified in PCR using DR52-associated group primers. This product could not be identified using established restriction digests, however. Use of Asp 700, Msp I, Hha I, Bse RI, Mnl I, Hph I, and Bsrb I gave banding patterns expected for a DRβ1 ∗03011 allele, but Rsa I had an additional site at codon 47. Sequencing showed a single base change at this position, with the substitution of tyrosine for phenylanine in this new allele. The biologic impact of this substitution remains to be determined.

A computerized method to predict the discriminatory properties for class II sequencing based typing

Accurate identification of alleles or groups of alleles is obtained using DNA techniques for HLA class II typing. In PCR-SSP and PCR-SSO the typing resolution is dependent on the location of the amplification primers and the number of oligonucleotide probes used for hybridization. These primers are developed based upon the known allele sequences. However, the number of published allele sequences increases rapidly. Periodic reconsideration of the discriminatory properties of the methods used is necessary and often leads to the addition of primers, and an increase of ambiguous genotypes. SET is a high-resolution class II typing method which utilizes the second exon sequence at all positions for typing. Using a generic amplification and sequencing approach, a limited number of ambiguous heterozygotes can be expected. However, the number of ambiguities is dependent on the location of the primers. These ambiguities can be solved by the use of group-specific primers in either the amplification or sequencing reaction. To identify the applicability of a SBT approach with respect to typing resolution, it is important to identify these ambiguities and develop strategies to solve them. We developed software that predicts the ambiguous heterozygotes, and analyzes their sequences for group-specific primers, solving these ambiguities. The location of the primers is considered as well as the use of generic vs group-specific amplification or sequencing reactions. Allele sequences of all class II genes, as accepted by the WHO nomenclature committee for factors of the HLA system and submitted to the EMBL/Genbank databases, are analyzed to define the allelic discrimination level of HLA-DQB1, -DQA1, -DPB1, -DPA1, -DRB1, -DRB3, -DRB4, and -DRB5.

DPB1*5901a: a novel HLA‐DPB1 allele from a Caucasian family with insulin‐dependent diabetes mellitus

Tissue AntigensVolume 47, Issue 2 p. 159-162 DPB1*5901a: a novel HLA-DPB1 allele from a Caucasian family with insulin-dependent diabetes mellitus J. A. Noble, Corresponding Author J. A. Noble Departments of Human Genetics, Roche Molecular Systems, Alameda, California, USADepartment of Human Genetics Department of Core Research Roche Molecular Systems 1145 Atlantic Avenue Alameda, CA 94501 USASearch for more papers by this authorA. S. Cavalli, A. S. Cavalli Departments of Core Research, Roche Molecular Systems, Alameda, California, USASearch for more papers by this authorH. A. Erlich, H. A. Erlich Departments of Human Genetics, Roche Molecular Systems, Alameda, California, USASearch for more papers by this author J. A. Noble, Corresponding Author J. A. Noble Departments of Human Genetics, Roche Molecular Systems, Alameda, California, USADepartment of Human Genetics Department of Core Research Roche Molecular Systems 1145 Atlantic Avenue Alameda, CA 94501 USASearch for more papers by this authorA. S. Cavalli, A. S. Cavalli Departments of Core Research, Roche Molecular Systems, Alameda, California, USASearch for more papers by this authorH. A. Erlich, H. A. Erlich Departments of Human Genetics, Roche Molecular Systems, Alameda, California, USASearch for more papers by this author First published: February 1996 https://doi.org/10.1111/j.1399-0039.1996.tb02533.xCitations: 8 The nucleotide sequence reported in this paper has been submitted to the GenBank database and has been assigned the accession number U29534. The name DPB1*5901 has been officially assigned by the WHO Nomenclature Committee in May 1995. This follows the agreed policy that, subject to the conditions stated in the most recent Nomenclature Report (Bodmer et al. 1995), names will be assigned to new sequences as they are identified. Lists of such new names will be published in the following WHO Nomenclature Report (1). AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Citing Literature Volume47, Issue2February 1996Pages 159-162 RelatedInformation

Nomenclature for factors of the HLA system, update October 1995.

International Journal of ImmunogeneticsVolume 23, Issue 1 p. 71-72 NOMENCLATURE FOR FACTORS OF THE HLA SYSTEM, UPDATE OCTOBER 1995* S. G. E. Marsh, Corresponding Author S. G. E. MarshSteven G. E. Marsh, Tissue Antigen Laboratory, Imperial Cancer Research Fund, 44 Lincoln's Inn Fields, London WC2A 3PX, UK.Search for more papers by this author S. G. E. Marsh, Corresponding Author S. G. E. MarshSteven G. E. Marsh, Tissue Antigen Laboratory, Imperial Cancer Research Fund, 44 Lincoln's Inn Fields, London WC2A 3PX, UK.Search for more papers by this author First published: February 1996 https://doi.org/10.1111/j.1744-313X.1996.tb00266.x * Compiled for the WHO Nomenclature Committee for factors of the KLA system. AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. Volume23, Issue1February 1996Pages 71-72 RelatedInformation