[Identification and sequence analysis of a null HLA-B allele HLA-B*5408N newly detected].
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.
Lü
Qin-Feng
QF
Blood Center of Zhejiang Province, Key Laboratory of Blood Safety Research, Ministry of Health, Hangzhou 310006, China.
Zhu
Fa-Ming
FM
Zhang
Wei
W
He
Jun-Jun
JJ
Wang
Wei
W
Han
Zhe-Dong
ZD
Yan
Li-Xing
LX
D000483:Alleles; D002681:China; D005091:Exons / Q000235:genetics; D015235:HLA-B Antigens / Q000235:genetics*; D006801:Humans; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
D015235:HLA-B Antigens