A novel HLA‐B null allele (B*4022N) generated by a nonsense codon in the α1 domain
- 1 April 2000
- journal article
- Published by Wiley in Tissue Antigens
- Vol. 55 (4) , 378-380
- https://doi.org/10.1034/j.1399-0039.2000.550414.x
Abstract
We describe in this work a novel HLA‐B null allele designated B*4022N. This new variant was found in a Caucasian individual who was serologically typed for one HLA‐B allele as a B‐blank, Bw‐blank. Retrospective DNA typing by polymerase chain reaction using sequence‐specific primers (PCR‐SSP) has established the correspondence of this blank allele with the classical HLA‐B*4001 allele. Nucleotide sequence analysis of exon 2 and 3 has revealed the presence of two adjacent point mutations at position 170 and 171 of exon 2 (GG to TT). While the first difference is silent, the second leads to the creation of a nonsense codon at position 58 of the α1 domain, providing the most likely mechanism underlying the observed null phenotype ( Note).Keywords
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