Identification of a novel DR4 allele, DRB1*0442.
A new DRB1 allele encoding DR4, DRB1*0442, was identified in three Caucasian siblings by reverse in-line hybridization and defined by sequencing based typing. The DRB1*0442 allele differs from DRB1*0404 by a single nucleotide at position 227 (T-->A) of codon 47 in exon 2. At the amino acid level, this substitution results in a change from tyrosine to phenylalanine. Serologically, the new allele appears to retain the DR4 antigenicity; however, this substitution may affect peptide-binding specificity.
Dunn
T A
TA
Department of Medicine, Institute of Genetic Medicine, The Johns Hopkins University School of Medicine Baltimore, MD 21205, USA.
Iglehart
B A
BA
Leffell
M S
MS
D000483:Alleles; D019943:Amino Acid Substitution; D001483:Base Sequence; D005091:Exons; D005260:Female; D005838:Genotype; D006684:HLA-DR Antigens / Q000235:genetics*; D015804:HLA-DR4 Antigen / Q000235:genetics* / Q000276:immunology; D059811:HLA-DRB1 Chains; D006239:Haplotypes; D006650:Histocompatibility Testing; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009679:Nuclear Family; D009693:Nucleic Acid Hybridization; D020641:Polymorphism, Single Nucleotide; D016415:Sequence Alignment; D044465:White People / Q000235:genetics
D006684:HLA-DR Antigens; D015804:HLA-DR4 Antigen; D059811:HLA-DRB1 Chains