PMID- 19504438 OWN - NLM STAT- MEDLINE DCOM- 20090917 LR - 20221207 IS - 1003-9406 (Print) IS - 1003-9406 (Linking) VI - 26 IP - 3 DP - 2009 Jun TI - [Identification of a novel allele HLA-DRB1*1218]. PG - 272-6 LID - 10.3760/cma.j.issn.1003-9406.2009.03.008 [doi] AB - OBJECTIVE: To identify a novel human leukocyte antigen (HLA) allele by cloning and sequence-based typing in Chinese population, and analyzing the sequence of the introns 1 and 2. METHODS: The routine HLA-A, -B, -DRB1 low resolution genotyping for stem cell donor from Guangdong province was performed with polymerase chain reaction-sequence specific oligonucleotide probes (PCR-SSOP). An unknown HLA-DRB1 allele was initially detected by HLA typing. Genomic DNA of the proband was amplified by using HLA-DRB1 locus group-specific primer, the amplified product was cloned, sequenced, and compared to the closest DRB1*120201 allele and the closest intron sequence of the DRB1*030101 allele. RESULTS: The sequencing results showed that a normal DRB1*080302 and a novel DRB1*1218 variant allele were identified. The sequence of the novel allele has been submitted to GenBank (FJ481086). The novel allele had 1 nucleotide substitution of the closest matching allele HLA-DRB1*120201 at nt262(G-->C) in exon 2,resulting in an amino acid change from Glu(GAG)-->Gln (CAG) at codon 59.The intron 2 sequence is identical between the novel HLA-DRB1*1218 and DRB1*030101, but there are 12 nucleotides substitution in intron 1. CONCLUSION: A novel HLA allele was confirmed by cloning and sequence-based typing in Chinese. It was officially designated as HLA-DRB1*1218 by WHO Nomenclature Committee. FAU - Gao, Su-qing AU - Gao SQ AD - Shenzhen Blood Center Institute, Shenzhen HLA Laboratory of CMDP, Shenzhen, Guangdong, 518035 PR China. FAU - Deng, Zhi-hui AU - Deng ZH FAU - Xu, Yun-ping AU - Xu YP LA - chi SI - GENBANK/FJ481086 PT - Journal Article PL - China TA - Zhonghua Yi Xue Yi Chuan Xue Za Zhi JT - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics JID - 9425197 RN - 0 (HLA-DR Antigens) RN - 0 (HLA-DRB1 Chains) RN - 0RH81L854J (Glutamine) RN - 3KX376GY7L (Glutamic Acid) SB - IM MH - *Alleles MH - *Amino Acid Substitution MH - Asian People/genetics MH - Base Sequence MH - Cloning, Molecular MH - Exons/genetics MH - Glutamic Acid/genetics MH - Glutamine/genetics MH - HLA-DR Antigens/*genetics MH - HLA-DRB1 Chains MH - Humans MH - Molecular Sequence Data EDAT- 2009/06/09 09:00 MHDA- 2009/09/18 06:00 CRDT- 2009/06/09 09:00 PHST- 2009/06/09 09:00 [entrez] PHST- 2009/06/09 09:00 [pubmed] PHST- 2009/09/18 06:00 [medline] AID - 940626058 [pii] AID - 10.3760/cma.j.issn.1003-9406.2009.03.008 [doi] PST - ppublish SO - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Jun;26(3):272-6. doi: 10.3760/cma.j.issn.1003-9406.2009.03.008.