title: [Identification and sequence analysis of a null HLA-B allele HLA-B*5408N newly detected].
abstract: The study was purposed to investigate the molecular genetic basis for HLA novel allele HLA-B*5408N in Chinese population. DNA was extracted from whole blood by commercial DNA extraction kit, the HLA-B exons 2 - 4 of the proband was amplified by allele specific primers PCR and the amplified product was sequenced for exons 2, 3 and 4 bidirectionally. The sequencing results showed HLA-B alleles of the proband as B*1527 and the novel allele. The sequences of the novel allele have been submitted to Genbank (DQ295998, DQ295999, DQ296000). After blast analysis, the novel allele showed a single nucleotide mismatch with HLA-B*5401 in exon 3 at position 553 G-->T, which resulted in an amino acid changing from Glu to premature stop codon at position 161. No the HLA-B54 antigen specificity expression in the proband cells was found using HLA-AB serological Typing Trays. It is concluded that this allele is a novel null allele and has been officially named B*5408N by the WHO Nomenclature Committee.
authors: Blood Center of Zhejiang Province, Key Laboratory of Blood Safety Research, Ministry of Health, Hangzhou 310006, China.
authors: Qin-Feng
authors: QF
authors: Lü
authors: Fa-Ming
authors: FM
authors: Zhu
authors: Wei
authors: W
authors: Zhang
authors: Jun-Jun
authors: JJ
authors: He
authors: Wei
authors: W
authors: Wang
authors: Zhe-Dong
authors: ZD
authors: Han
authors: Li-Xing
authors: LX
authors: Yan
mesh_terms: D000483:Alleles; D002681:China; D005091:Exons / Q000235:genetics; D015235:HLA-B Antigens / Q000235:genetics*; D006801:Humans; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: D015235:HLA-B Antigens