| Title: |
A novel HLA‐B null allele (B*4022N) generated by a nonsense codon in the α1 domain |
| Authors: |
Tamouza, R.; Sadki, K.; Schaeffer, V.; Carbonnelle, E.; Tatari, Z.; Chabod, J.; Toubert, A.; Raffoux, C.; Sayada, C.; Charron, D. |
| Source: |
Tissue Antigens ; volume 55, issue 4, page 378-380 ; ISSN 0001-2815 1399-0039 |
| Publisher Information: |
Wiley |
| Publication Year: |
2000 |
| Collection: |
Wiley Online Library (Open Access Articles via Crossref) |
| Description: |
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). |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1034/j.1399-0039.2000.550414.x |
| Availability: |
https://doi.org/10.1034/j.1399-0039.2000.550414.x; https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1034%2Fj.1399-0039.2000.550414.x; https://onlinelibrary.wiley.com/doi/pdf/10.1034/j.1399-0039.2000.550414.x |
| Rights: |
http://onlinelibrary.wiley.com/termsAndConditions#vor |
| Accession Number: |
edsbas.902E9EB |
| Database: |
BASE |