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HLA-DR51 expression failure caused by a two-base deletion at exon 2 of a DRB5 null allele (DRB5*0110N) in a Spanish gypsy family.
- Source :
-
Tissue Antigens . May2000, Vol. 55 Issue 5, p467-469. 3p. 1 Diagram. - Publication Year :
- 2000
-
Abstract
- Here we describe a new HLA class II null allele at the DRB5 gene. Serologic HLA typing of a Spanish gypsy family rendered the following paternal haplotype: A2-Cblk-B52-Bw4-DR15-DQ5. However, DNA typing demonstrated the presence of a DRB5 gene in the haplotype DRB1*1502- DRB5*0102-DQB1*05031. Complete DRB5 cDNA sequencing revealed a DRB5*0102 allele with a deletion of two nucleotides at exon 2 (239-240) in codon 80. This change generates a frame shift leading to a stop codon at position 86, and could explain the lack of DR51 protein at the cell surface. This is the second DRB5 null allele described together with DRB5*0108N, raising the number of HLA alleles with an expression disorder. [ABSTRACT FROM AUTHOR]
- Subjects :
- *ALLELES
*ROMANIES
*NUCLEOTIDES
Subjects
Details
- Language :
- English
- ISSN :
- 00012815
- Volume :
- 55
- Issue :
- 5
- Database :
- Academic Search Index
- Journal :
- Tissue Antigens
- Publication Type :
- Academic Journal
- Accession number :
- 5861386
- Full Text :
- https://doi.org/10.1034/j.1399-0039.2000.550513.x