| Abstract: |
Adrenal 21-hydroxylase deficiency is strongly associated with HLA-Bw47. This rare HLA allele and the HLA-B13 allele are both found in positive genetic linkage disequilibrium with HLA-A3, -Cw6, -DR7 and also display serological cross-reactivity. To investigate the relationship between these two alleles at the structural level, the nucleotide sequences of the HLA-B13 and HLA-Bw47 genes have been determined. They differ by 28 nucleotides, resulting in 14 amino acid substitutions: 5 in the α1 domain, 8 in the α2 domain, and 1 in the transmembrane region. Comparison of HLA-Bw47 nucleotide sequence with other HLA-B sequences shows a segment of 228 by identical with B44 in the a 1 domain and a segment of 218 by identical with B27 in the a2 domain, but only a 91 by segment of identity with B13 in the al domain. The complex pattern of substitutions and their degree of divergence indicate that HLA-B13 and HLA-Bw47 alleles are not related by a simple mutational event. © 1988 Springer-Verlag. |
| Keywords: |
human cell; comparative study; alleles; amino acid sequence; molecular sequence data; genetic engineering; cell culture; nucleotide sequence; base sequence; sequence homology, nucleic acid; hla antigens; genetic linkage; cross reactions; human; isoelectric point; support, non-u.s. gov't; support, u.s. gov't, p.h.s.; steroid hydroxylases; steroid 21 monooxygenase deficiency; adrenal hyperplasia, congenital; hla b13 antigen; hla bw47 antigen
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