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Identification of the null HLA-A2 allele, A*0232N
Journal article   Peer reviewed

Identification of the null HLA-A2 allele, A*0232N

M. Bunce, J. Procter, P.P.J. Dunn, S. Day, J. Ross and K.I. Welsh
Tissue Antigens, Vol.55(1), pp.31-36
2000
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Abstract

We have identified a null HLA-A*02 allele, HLA-A*0232N, by using a combination of serology, flow cytometry, polymerase chain reaction using sequence-specific primers (PCR-SSP) and full-length sequencing. The null HLA-A2 allele was identified in an Asian individual originally typed by serology as an apparently homozygous HLA-A3, B51. Subsequent genotyping by PCR-SSP identified the genotype as HLA-A*0201, *0301, B*51, Cw*1402. The serological type and lack of detectable HLA-A2 was confirmed using monoclonal antibody typing reagents. Flow cytometry studies failed to identify any cell surface HLA-A2 expression on the patient 19s peripheral blood lymphocytes. Genotyping using a PCR-SSP set designed to detect null alleles revealed the mutation had not been previously described. Full-length sequencing of the allele identified an allele which was subsequently named HLA-A*0232N. This allele is identical to HLA-A*0201 except for a novel point mutation (T for C) at position 493 which creates a premature stop codon. The sequencing enabled the development of a monospecific A*0232N PCR-SSP reaction which was used to screen 973 DNA samples: no further examples of A*0232N were identified.

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Citation topics
1 Clinical & Life Sciences
1.6 Immunology
1.6.607 MHC Diversity
Web Of Science research areas
Cell Biology
Immunology
Pathology
ESI research areas
Molecular Biology & Genetics
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