- VernacularTitle:髋关节发育不良的分子遗传学研究进展
 - Author:
	        		
		        		
		        		
			        		Yanmin HE
			        		
			        		
			        		
			        			1
			        			
			        		
			        		
			        		
			        		
			        		;
		        		
		        		
		        		
			        		Wei ZHANG
			        		
			        		;
		        		
		        		
		        		
			        		Junjun HE
			        		
			        		;
		        		
		        		
		        		
			        		Wei WANG
			        		
			        		;
		        		
		        		
		        		
			        		Zhedong HAN
			        		
			        		;
		        		
		        		
		        		
			        		Nanying CHEN
			        		
			        		;
		        		
		        		
		        		
			        		Faming ZHU
			        		
			        		;
		        		
		        		
		        		
			        		Lixing YAN
			        		
			        		
		        		
		        		
		        		
			        		
			        		Author Information
			        		
 - Publication Type:Journal Article
 - MeSH: Alleles; Asian Continental Ancestry Group; genetics; Base Sequence; HLA-B Antigens; genetics; HLA-B15 Antigen; Humans; Male; Molecular Sequence Data
 - From: Chinese Journal of Medical Genetics 2009;26(6):678-680
 - CountryChina
 - Language:Chinese
 - 
		        	Abstract:
			       	
			       		
				        
				        	
OBJECTIVETo identify two novel HLA alleles HLA-B*9536 and B*4612, in an individual.
METHODSDNA was extracted from whole blood by Invitrogen DNA extraction kit. The amplification for HLA-B exons 2-4 of the proband was performed separately with allele group specific primers and the PCR products were directly sequenced for exons 2-4 in both direction.
RESULTSThere were two novel HLA-B alleles in the proband. The sequences of the two alleles have been submitted to GenBank (EU081878 and EU081879). The two alleles have been officially named as B*9536 and B*4612 by the WHO Nomenclature Committee. The sequence of exons 2-4 of HLA-B*9536 showed one nucleotide difference in exon 3 at position 544 (G to A) comparing with the closest allele B*1505, which resulted in an amino acid change from Ala to Thr at codon 158. In the HLA-B*4612 allele, there was one nucleotide change in exon 3 at position 363 (G to A), when compared to the closest allele B*4601, which lead to an amino acid change from Arg to Ser at codon 97.
CONCLUSIONTwo novel HLA-B alleles were identified in one individual and have been officially named by the WHO Nomenclature Committee.
 
            
