Full-length cDNA nucleotide sequence of a serologically undetectable YLLA-DQA1 allele: HLA-DQA1*"LA" |
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| Authors: | N. M. Lardy N. Otting A. R. van der Horst R. E. Bontrop L. P. de Waal |
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| Affiliation: | Department of HLA Diagnostics, Central Laboratory of the Dutch Red Cross Blood Transfusion Service;Department of Transplantation Immunology and Bloodbank, Central Laboratory of the Dutch Red Cross Blood Transfusion Service;Department of Immunobiology, Biomedical Primate Research Centre, Rijswijk, The Netherlands |
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| Abstract: | This study describes the characterization of a serological HLA-DQ "blank" specificity that segregates with the HLA-A2, -B7, -DR14, -DR52 haplotype. Although conventional serological typing techniques could not detect an HLA-DQ product on the haplotype positive for the HLA-DQ "blank" specificity, sequence-specific oligonucleotide (SSO) dot-blot analysis demonstrated the presence of the HLA- DQA1*01 and HLA- DQB1*05 alleles. Full-length cDNA nucleotide sequence analysis revealed that the HLA- DQB1 allele that segregated with the HLA-DQ "blank" specificity was identical to HLA- DQB1*05031. As for the HLA- DQA1 allele, one nucleotide substitution distinguished the HLA- DQA1 "blank" allele from HLA- DQA1*0104. In exon 2 at nucleotide position 304 a C was substituted for a T (Arg→Cys). Pending official recognition by the WHO Nomenclature Committee, this HLA- DQA1 "blank" allele is termed HLA- DQA1*"LA". Furthermore, it is postulated that the introduction of cysteine at amino acid position 102 abrogates the classical HLA-DQ1 specificity. |
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| Keywords: | cDNA HLA-DQ1 sequence analysis serologically undetectable |
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