Darke C, Guttridge M G, Street J, Thompson J, Thomas M
Regional Tissue Typing Laboratory, Welsh Blood Service, Cardiff, United Kingdom.
Tissue Antigens. 2000 Nov;56(5):467-9. doi: 10.1034/j.1399-0039.2000.560514.x.
Two new HLA-DRB1 alleles (DRB10704 and DRB11507) were detected during routine polymerase chain reaction (PCR)-based typing of two Caucasoid bone marrow panel donors due to apparent DRB1* "blanks" being associated with unexpected DRB4, DRB5 and DQB1 alleles. HLA-DRB10704 differed from DRB10701 by five consecutive nucleotides at positions 217 to 221 of exon 2 encoding two amino acids substitutions of tyrosine to asparagine at codons 77 and valine to tyrosine at codon 78. DRB11507 differed from DRB11501 by a single nucleotide at position 127 encoding an amino acid substitution of phenylalanine to tyrosine at codon 47. Their specificities were unequivocally assigned by serology as HLA-DR7 and DR15, respectively, and family and population studies allowed their likely HLA-A,B,C,DR,DQ and complement (Bf, C4A, C4B) bearing haplotypes to be identified. No further examples were found in 19,113 HLA-DR,DQ typed donors from the Welsh Bone Marrow Donor Registry indicating that both these alleles have a phenotype frequency of <0.01% and a gene frequency of <0.00003.
在对两名高加索骨髓库供者进行基于聚合酶链反应（PCR）的常规分型时，由于明显的DRB1“空白”与意外的DRB4、DRB5和DQB1等位基因相关，检测到两个新的HLA - DRB1等位基因（DRB10704和DRB11507）。HLA - DRB10704在编码外显子2第217至221位的五个连续核苷酸上与DRB10701不同，导致密码子77处酪氨酸被天冬酰胺取代以及密码子78处缬氨酸被酪氨酸取代这两个氨基酸替换。DRB11507在编码第47位密码子处苯丙氨酸被酪氨酸取代的氨基酸替换的第127位上与DRB11501有一个单核苷酸差异。它们的特异性分别通过血清学明确指定为HLA - DR7和DR15，家族和群体研究使其可能携带的HLA - A、B、C、DR、DQ和补体（Bf、C4A、C4B）单倍型得以确定。在威尔士骨髓供者登记处的19113名进行了HLA - DR、DQ分型的供者中未发现更多此类例子，这表明这两个等位基因的表型频率均<0.01%，基因频率<0.00003。
