Resumen
β2 microglobulin mutations are an important mechanism for HLA class I total loss, (phenotype No. I) and have been described in colon carcinomas, melanomas and lymphomas. We describe a new β2 microglobulin mutation detected in the melanoma cell line GR-34. The new mutation reported here was identified as a deletion of 4 bases (TTCT) in the highly repetitive sequence CTCTCTCTTTCT located in the leader sequence of the β2 micmglobulin gene at codon 15-16 of exon 1. The mutation produces a frameshift in the open reading frame sequence with the appearance of a stop codon at position 42. We also demonstrate that the second β2 microglobulin gene is deleted. Comparisons with β2 microglobulin mutations in other tumor cell lines suggest a mutation hot spot in exon 1.
Idioma original | Inglés |
---|---|
Páginas (desde-hasta) | 569-572 |
Número de páginas | 4 |
Publicación | Tissue Antigens |
Volumen | 53 |
N.º | 6 |
DOI | |
Estado | Publicada - 1999 |