Longhi E, Frison S, Espaolas de Arias A, Bianchi P, Ferrioli G, Poli F, Scalamogna M
Centro Trasfusionale e di Immunologia dei Trapianti, Ospedale Maggiore Policlinico IRCCS, Milan, Italy.
Tissue Antigens. 2003 Jul;62(1):66-71. doi: 10.1034/j.1399-0039.2003.00054.x.
In this brief communication we report the characterization of two new HLA-B variants officially named HLA-B0817 and HLA-B1311. The HLA-B0817 allele was identified in a Caucasoid male candidate for renal transplantation in the North Italy Transplant program. The nucleotidic sequence of exons 2, 3 and 4 of this novel allele is identical to that of HLA-B0804 except for three point mutations in exon 2: from A to G at position 259, from C to G at position 261 and from G to A at position 302. These mutations are responsible for two aminoacidic substitutions [Asn (r) Glu, codon 63, and Ser (r) Asn, codon 77]. HLA-B1311 was found in a volunteer donor belonging to National Marrow Donor Program(R). This new variant is identical to that of HLA-B1301 except for three nucleotide substitutions at positions 353, 355 and 369 leading to two aminoacidic variations from Ile to Thr at codon 94 and from Ile to Leu at codon 95 and a silent mutation at codon 99.
在本简短通讯中，我们报告了两个新的HLA - B变体的特征，它们被正式命名为HLA - B0817和HLA - B1311。HLA - B0817等位基因是在意大利北部移植项目中一名等待肾移植的白种男性候选者中鉴定出来的。该新等位基因外显子2、3和4的核苷酸序列与HLA - B0804的序列相同，只是外显子2中有三个点突变：第259位由A变为G，第261位由C变为G，第302位由G变为A。这些突变导致了两个氨基酸替换[第63位密码子Asn（r）Glu和第77位密码子Ser（r）Asn]。HLA - B1311是在一名属于国家骨髓捐赠项目（R）的志愿者捐赠者中发现的。这个新变体与HLA - B1301的变体相同，只是在第353、355和369位有三个核苷酸替换，导致第94位密码子由Ile变为Thr、第95位密码子由Ile变为Leu的两个氨基酸变异以及第99位密码子的一个沉默突变。
