- VernacularTitle:未结合型高胆红素血症患者UGT1A1基因的突变分析
- Author:
Yong-hong SONG
1
;
Yong-xin MAO
;
Kui DONG
;
Xiao-jian CHEN
;
Yan-xia GU
;
Chuan-fu ZHU
Author Information
- Publication Type:Journal Article
- MeSH: Alleles; Base Sequence; HLA-B Antigens; genetics; Histocompatibility Testing; Humans; Molecular Sequence Data; Sequence Analysis, DNA
- From: Chinese Journal of Medical Genetics 2013;30(2):168-171
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify a novel human leukocyte antigen (HLA) B allele and explore its family heritage.
METHODSA novel HLA allele was suspected upon routine HLA typing using a polymerase chain reaction-sequence specific oligonucleotide probe (PCR-SSOP) assay. The sequence was confirmed with DNA sequencing and compared with its closest matching allele, B*55:02. The family was also investigated.
RESULTSAn unusual reaction pattern was detected during routine HLA typing. The sequence was confirmed to be a novel HLA-B allele, which differed from the closest matching allele, B*55:02 in 7 nt positions in exon 2. Among the 7 mutations from 6 codons, there were two amino acids changes including 69Glu→Met and 70Glu→Ala.
CONCLUSIONA novel HLA-B allele has been identified and officially named as B*55:35 by the WHO Nomenclature Committee for Factors of the HLA System (GenBank accession number FJ898284).