This study describes the characterization of a serological HLA-DQ ''bl
ank'' specificity that segregates with the HLA-A2, -B7, -DR14, -DR52 h
aplotype. Although conventional serological typing techniques could no
t 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-DQA101 and HLA-DQB1*05
alleles. Full-length cDNA nucleotide sequence analysis revealed that t
he HLA-DQB1 allele that segregated with the HLA-DQ ''blank'' specifici
ty was identical to HLA-DQB105031. As for the HLA-DQA1 allele, one nu
cleotide substitution distinguished the HLA-DQA1 ''blank'' allele from
HLA-DQA10104. In exon 2 at nucleotide position 301 a C was substitut
ed for a T (Arg-->Cys). Pending official recognition by the WHO Nomenc
lature 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
.