A novel HLA‐B*40 allele and novel exon 1 sequences of two B*40 alleles identified in potential marrow donors

Abstract

Sequence-specific oligonucleotide probe hybridization and sequence-specific primer polymerase chain reaction (PCR) typing suggested the presence of variants of HLA-B*40 in three individuals. Two were part of 3,500 potential marrow donors being screened for the National Marrow Donor Program, while the third was a clinical specimen. PCR products encompassing HLA-B locus exons 1 through 3 were prepared and subcloned. In one individual, a native of the Pacific Islands, sequencing revealed a novel HLA-B*40 allele (B*4023). In two other individuals, a previously unknown exon 1 sequence was determined for HLA-B*4016 (ethnicity unknown) and B*4020 (Hispanic). These findings further illustrate the substantial genetic variation present at the HLA-B locus within human populations.

Elucidation of Exon 1, 4, and 5 Sequences of 39 Infrequent HLA-B Alleles

“…The exon 4 and 5 sequences of B*4012 and *4016 were determined and found to be identical to the B*4001 group, as were their exon 1-3 sequences (Figures 2 and 3) [1,[32][33][34].…”

Identification and sequencing of HLA‐B*0714 and B*2718 alleles and novel exon 1 sequences of B*0709 and B*2714 alleles in potential bone marrow donors

“…Both polymerase chain reaction (PCR) sequence‐specific oligonucleotide probe hybridization (SSOPH) and sequence‐specific primer PCR (SSP‐PCR) were employed for typing. Samples exhibiting unusual reaction patterns were further characterized by DNA sequencing (3). The variation in protein sequence is described with regard to potentially significant alterations in peptide binding and presentation.…”

A nonsense mutation in Exon 3 results in the HLA‐B null allele B*5127N

“…In order to characterize the putative B*51N allele, two methods were used in parallel to sequence HLA‐B (3, 4). Sequencing confirmed a new null allele, now referred to as HLA‐B*5127N.…”

“… Alignment of B*5127N with B*5101. The sequence of B*5127N was determined by single allele amplification (3) and by TA cloning of PCR products (4). Multiple independent clones were sequenced from both methods.…”