Elongation of the cytoplasmic domain, due to a point deletion at exon 7, results in an HLA‐C null allele, Cw*0409 N

• DOI: 10.1034/j.1399-0039.2002.590204.x
• Publication Date: 2003-03-12T20:57:07Z
• Authors: A. Balas; S. Santos; M.J. Aviles; F. García‐Sánchez; R. Lillo; A. Alvarez; L.M. Villar‐Guime...; J.L. Vicario
• Keywords: Stop codon; Null allele; HLA-A

The development of molecular techniques for HLA typing has allowed the identification genes previously assigned as serologic blank alleles. Lack or poor cell surface expression been found molecules coded by HLA-A, -B, -DRB4, -DRB5, and -DPB1 genes. In this report we describe first HLA-C gene encoding a null molecule. HLA-Cw*0409 N shows point deletion at position 1095 within exon 7. This mutation provokes codon reading shift, generating new translation stop 97 bp downstream to that described in alleles normally expressed. location implies presence 32 extra amino acid residues cytoplasmic domain. Transfection experiments suggest elongation domain Cw*0409 would be cause failure, although heavy chain is able create stable complexes with beta2-microglobulin. fragment length analysis small selected group samples B44-Cblk haplotypic associations us identify two additional subjects showing both silent Cw*04 allele base 3' end gene. finding indicates frequency C appreciable, basically restricted (A23)-Cw*0409 N-B*4403-DR7-DQ2 haplotype.