Identification of a novel HLA allele HLA-B*40:96.
- Author:
Chuan-fu ZHU
1
;
Yi ZHANG
;
Yun-long ZHUANG
;
Yong-hong SONG
;
Yan LIU
;
Xiang-min NIE
Author Information
- Publication Type:Journal Article
- MeSH: Alleles; Base Sequence; Female; HLA-B Antigens; genetics; Haplotypes; Histocompatibility Testing; Humans; Molecular Sequence Data; Pedigree; Sequence Alignment
- From: Chinese Journal of Medical Genetics 2011;28(5):517-520
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify a novel human leukocyte antigen (HLA) allele in Chinese and investigate its inheritance in the family.
METHODSExceptional 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.
RESULTSThe 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.
CONCLUSIONA 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.
