Tavoularis S, Couture C, Ribeiro-Barros E
Head Office, Canadian Blood Services, 1800 Alta Vista Drive, Ottawa, Ontario, Canada K1G 4J5.
Tissue Antigens. 2004 May;63(5):496-500. doi: 10.1111/j.0001-2815.2004.00186.x.
Three novel human leukocyte antigen class II alleles (DRB30110, DRB11140, and DRB1140102) are described here. The three novel alleles were initially detected as previously unidentified SSO hybridization patterns using CANTYPE((R)) reverse hybridization assay. Sequences were determined by cloning/sequencing. DRB30110 allele is identical to DRB3010101, except for a single nucleotide substitution (CGC-->AGC) changing codon 39 from Arg to Ser. This polymorphism has not, until now, been identified in DRB allele. Thus, this is an unusual mutation as the codon 39 is a fairly conserved region. The new DRB11140 is identical to DRB11116, except for a single nucleotide substitution at codon 67 from ATC (encoding for isoleucine) to TTC (encoding for phenylalanine). This polymorphism is commonly found in DRB111 alleles. Compared with DRB1140101, DRB1140102 contains a single silent nucleotide substitution (TAT-->TAC, both encoding for tyrosine) at codon 78. This polymorphism is commonly found in DRB114 alleles. The three new DRB alleles may have been generated by a point mutation event. The DRB30110 and DRB1140102 were identified in Caucasoid individuals. The ethnic origin of the subject carrying the DRB11140 allele is Egyptian. The DRB1140102 was detected in two unrelated individuals; the DRB30110 and DRB1*1140 were only identified once, in a total population of 80,000.
本文描述了三个新的人类白细胞抗原II类等位基因(DRB30110、DRB11140和DRB1140102)。这三个新等位基因最初是使用CANTYPE((R))反向杂交分析法检测到的,呈现出先前未鉴定的序列特异性寡核苷酸(SSO)杂交模式。通过克隆/测序确定了序列。DRB30110等位基因与DRB3010101相同,只是有一个单核苷酸替换(CGC→AGC),导致第39位密码子由Arg变为Ser。到目前为止,这种多态性在DRB等位基因中尚未被发现。因此,这是一个不寻常的突变,因为第39位密码子是一个相当保守的区域。新的DRB11140与DRB11116相同,只是第67位密码子有一个单核苷酸替换,从ATC(编码异亮氨酸)变为TTC(编码苯丙氨酸)。这种多态性在DRB111等位基因中很常见。与DRB1140101相比,DRB1140102在第78位密码子处有一个单核苷酸沉默替换(TAT→TAC,两者均编码酪氨酸)。这种多态性在DRB114等位基因中很常见。这三个新的DRB等位基因可能是由点突变事件产生的。DRB30110和DRB1140102在白种人中被鉴定出来。携带DRB11140等位基因的个体的种族来源是埃及人。DRB1140102在两个不相关的个体中被检测到;DRB30110和DRB1*1140在总共800