Article
HLA class I allele (HLA-A2) expression defect associated with a mutation in its enhancer B inverted CAT box in two families.
Human immunology - 1 Sept 1994
Balas A, García-Sánchez F, Gómez-Reino F, Vicario J L
Abstract excerpt
The present study shows a very highly diminished HLA-A2 cell surface expression with mendelian segregation in two nonrelated Spanish families. The associated haplotype included Cblank-B38-DRB1*1301-DQ6 in both families. cDNA sequence analysis in two members, one of each pedigree, revealed the presence of the commonest HLA-A2 allele (A*0201), without repetitive mutations that could indicate inappropriate or...
Topics
- Base Sequence
- Enhancer Elements, Genetic
- HLA-A2 Antigen
- Humans
- Molecular Sequence Data
- Mutation
- Pedigree
- Transcription, Genetic