title: HLA-A*02010102L: a laborious assignment.
abstract: In the present report we describe the laborious identification of the A*02010102L allele found in three healthy individuals of a French family who have shown a reduced A2 antigen expression using serological tests since the 1980s. PCR-SSP typing showed a classical A*0201 allele. Sequencing of exons 2, 3 and 4 confirmed this assignment. Sequencing of the whole gene (promoter, introns and exons 1-8) revealed one single point mutation (T to C) at position -101 in the enhancer B element region compared to the A*02010101 allele. This single mutation appears to be related to the reduced expression of the A2 antigen. This allele segregates with the haplotype Cw*12, B44, DR7, DQ2, which is different to the one described earlier.
authors.affiliation: Laboratoire d'histocompatibilité, Vandoeuvre-les-Nancy, France. p.perrier@chu-nancy.fr
authors.forename: P
authors.initials: P
authors.lastname: Perrier
authors.forename: A
authors.initials: A
authors.lastname: Dormoy
authors.forename: C
authors.initials: C
authors.lastname: Andre-Botte
authors.forename: N
authors.initials: N
authors.lastname: Froelich
mesh_terms: D000483:Alleles; D001483:Base Sequence; D015234:HLA-A Antigens / Q000145:classification* / Q000235:genetics* / Q000378:metabolism; D015789:HLA-A2 Antigen / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008969:Molecular Sequence Data; D016415:Sequence Alignment
chemical_list: D015234:HLA-A Antigens; C520984:HLA-A*02:01:01:02L antigen; D015789:HLA-A2 Antigen