Identification and sequence analysis of a novel HLA-B*5614 allele.
- Author:
Fa-ming ZHU
1
;
Qin-feng LU
;
Wei ZHANG
;
Hai-qin ZHANG
;
Qi-hua FU
;
Li-xing YAN
Author Information
- Publication Type:Case Reports
- MeSH: Alleles; Exons; genetics; HLA-B Antigens; genetics; Humans; Male; Molecular Sequence Data; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Sequence Analysis, DNA; methods
- From: Chinese Journal of Medical Genetics 2005;22(3):288-290
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the molecular genetics basis for a novel HLA allele, HLA-B*5614, in Chinese population.
METHODSDNA was extracted from whole blood by salting-out method. The HLA-B exons 2-4 of the proband was amplified and the amplified product was cloned using TOPO cloning sequencing kit to split the two alleles apart. Both strands of exons 2,3 and 4 of chosen colonies were sequencing. The PCR-SSP was performed to confirm the mutations detected by sequencing.
RESULTSThe sequencing results showed the HLA-B alleles of the proband as B*1502 and the novel allele. The sequences of the novel allele have been submitted to GenBank (AY601726, AY610727, AY610728). After BLAST analysis, the novel allele differs from B*5608 by a single nucleotide at position 277G-->C in exon 2. This results in an amino acid change from Gly to Arg at codon 93.
CONCLUSIONThis allele is a novel allele and has been officially named B*5614 by the WHO Nomenclature Committee.
