PMID- 21983724 OWN - NLM STAT- MEDLINE DCOM- 20111209 LR - 20111010 IS - 1003-9406 (Print) IS - 1003-9406 (Linking) VI - 28 IP - 5 DP - 2011 Oct TI - [Identification of a novel HLA allele HLA-B*40:96]. PG - 517-20 LID - 10.3760/cma.j.issn.1003-9406.2011.05.009 [doi] AB - OBJECTIVE: To identify a novel human leukocyte antigen (HLA) allele in Chinese and investigate its inheritance in the family. METHODS: Exceptional reaction pattern was detected in HLA-B locus in HLA typing using Luminex DNA polymerase chain reaction with sequence specific oligonucleotide probe hybridization (PCR-SSOP) assay. A confirmatory test for the novel HLA allele was performed by DNA sequencing based typing of the proband's family. RESULTS: The DNA sequence was confirmed to be a novel HLA B allele. There were 7 nucleotides which differed from the closest matching HLA B*40:06:01 at positions 302(G to A), 309(G to C), 311(A to C), 313(C to G), 314(T to C), 317(G to T), and 319(G to C) in exon 2, which resulted in 5 amino acid changes at codon 101 (Ser to Asn), 104 (Asn to Thr), 105 (Leu to Ala), 106 (Arg to Leu), and 107 (Gly to Arg), respectively. Family investigation indicated that the novel allele was transmitted from the proband's father. CONCLUSION: A novel HLA B allele was identified and officially named as HLA-B*40:96 (GenBank accession No. FJ374890) by the WHO Nomenclature Committee for Factors of the HLA System. FAU - Zhu, Chuan-fu AU - Zhu CF AD - Blood Center of Shandong Province, Jinan, Shandong, Peolple's Republic of China. chuanfuzhu@yahoo.com.cn FAU - Zhang, Yi AU - Zhang Y FAU - Zhuang, Yun-long AU - Zhuang YL FAU - Song, Yong-hong AU - Song YH FAU - Liu, Yan AU - Liu Y FAU - Nie, Xiang-min AU - Nie XM LA - chi SI - GENBANK/FJ374890 PT - English Abstract 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-B Antigens) SB - IM MH - *Alleles MH - Base Sequence MH - Female MH - HLA-B Antigens/*genetics MH - Haplotypes MH - Histocompatibility Testing MH - Humans MH - Molecular Sequence Data MH - Pedigree MH - Sequence Alignment EDAT- 2011/10/11 06:00 MHDA- 2011/12/14 06:00 CRDT- 2011/10/11 06:00 PHST- 2011/10/11 06:00 [entrez] PHST- 2011/10/11 06:00 [pubmed] PHST- 2011/12/14 06:00 [medline] AID - 940628102 [pii] AID - 10.3760/cma.j.issn.1003-9406.2011.05.009 [doi] PST - ppublish SO - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Oct;28(5):517-20. doi: 10.3760/cma.j.issn.1003-9406.2011.05.009.