- 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).
 
            
