title: Molecular characterization of the HLA-Cw*0409N allele.
abstract: Various molecular methods in conjunction with serologic assays are used for clinical human leukocyte antigen (HLA) typing. Although serologic reagents detect most HLA-A and -B allospecificities, serologic HLA-C typing is hampered by the lack of informative antisera for many of the known HLA-C gene products. HLA antigens not detected by serology, but detected by molecular methods, are often referred to as "blank" antigens. Their lack of reactivity with antibodies in serological assays often reflects the presence of null alleles. The present study has characterized an HLA-Cw*04 allele (Cw*0409N) detected by DNA typing but not by serology. In cultured B-lymphoid 13W09501 cells carrying this Cw*04 null allele, isoelectric focusing analysis could not detect any component with a pattern compatible with that of the product of the HLA-Cw*0401 allele, but detected components reacting with an anti-HLA-Cw4 and Cw6 monoclonal antibody. Sequencing analysis of the full length HLA-Cw4 cDNA amplified from the cell line 13W095-01 revealed a base deletion at codon 365 in exon 7, resulting in a reading frame shift that added 32 amino acids at the C-terminal of the HLA-Cw4 heavy chain. These results indicate that the HLA-Cw*0409N allele may produce a putative long HLA-Cw4 heavy chain that is not expressed on the cell surface.
authors.affiliation: Department of Cancer Immunology and AIDS, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA. zhigang_wang@dfci.harvard.edu
authors.forename: Zhigang C
authors.initials: ZC
authors.lastname: Wang
authors.forename: Anajane G
authors.initials: AG
authors.lastname: Smith
authors.forename: Edmond J
authors.initials: EJ
authors.lastname: Yunis
authors.forename: Annamalai
authors.initials: A
authors.lastname: Selvakumar
authors.forename: Soldano
authors.initials: S
authors.lastname: Ferrone
authors.forename: Susan
authors.initials: S
authors.lastname: McKinney
authors.forename: Jar How
authors.initials: JH
authors.lastname: Lee
authors.forename: Marcelo
authors.initials: M
authors.lastname: Fernandez-Vina
authors.forename: John A
authors.initials: JA
authors.lastname: Hansen
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D018076:DNA, Complementary; D005260:Female; D015236:HLA-C Antigens / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data
chemical_list: D018076:DNA, Complementary; D015236:HLA-C Antigens; C039966:HLA-C*04 antigen