Identification and sequence analysis of a novel human leukocyte antigen allele B*54:09 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify a novel human leukocyte antigen(HLA) allele in Chinese population.</p><p><b>METHODS</b>HLA typing was carried out with polymerase chain reaction-sequence specific oligonucleotide probes (PCR-SSOP). The HLA-B exons 1-7 of the proband were amplified and the product was cloned using a TOPO TA cloning sequencing kit to separate the two alleles. Both strands of exons 2 and 3 of selected colonies were sequenced. Sequence-based typing (SBT) was used to identify and analyze the difference between the new allele and the closest matching HLA-B allele.</p><p><b>RESULTS</b>HLA typing indicated a SSOP pattern which did not match with known HLA-B alleles. The results of the sequencing suggested the HLA-B alleles of the proband as B*59:01 and a novel allele. The HLA-B exon 3 sequence of the novel allele was different from any known alleles. This allele differs from the closest matching B*54:06 allele by 6 nucleotides, which included nt486 (G to C), nt527 (A to T), nt538 (T to C), nt539 (G to T), nt559 (C to A) and nt560 (T to C) in exon 3, resulting in substitutions of three amino acids including Glu to Val at codon 152, Trp to Leu at codon 156 and Leu to Thr at codon 163.</p><p><b>CONCLUSION</b>A novel HLA-B allele has been identified and has been designated as HLA-B*54:09 by WHO Nomenclature Committee for Factors of the HLA System.</p>

A new human leukocyte antigen class I allele, HLA- B*52:11 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify and confirm a novel HLA allele.</p><p><b>METHODS</b>A new human leukocyte antigen class I allele was found during routine HLA genotyping by polymerase chain reaction-sequence specific oligonucleotide probes (PCR-SSOP) and sequencing-based typing (SBT).</p><p><b>RESULTS</b>The novel HLA-B*52 allele was identical to B*52:01:01 with an exception of one base substitution at position 583 of exon 3 where a C was changed to T resulting in codon 195 changed from CAC(H) to TAC(Y).</p><p><b>CONCLUSION</b>A new HLA class I allele, B*52:11, is identified, and is named officially by the WHO Nomenclature Committee.</p>

Identification of a novel allele human leukocyte antigen B*4609 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify a novel human leukocyte antigen (HLA) allele.</p><p><b>METHODS</b>HLA typing was carried out with PCR-SSOP. Molecular cloning and DNA sequencing were used to identify the sequence of a potential novel allele and the difference between this new allele and other known alleles was analyzed.</p><p><b>RESULTS</b>HLA genotyping of one sample gave different results. The sequencing results showed that the HLA B alleles of the proband were B*151101 and a novel allele. The nucleotide sequence of the novel allele was different from all other known B alleles. It had one nucleotide change from the closest matching allele B*460101 at nucleotide 527 (A to T) in exon 3, resulting in an amino acid change from E (GAG) to V (GTG) at codon 176.</p><p><b>CONCLUSION</b>A novel HLA B allele was identified and officially designated as HLA B*4609 by WHO Nomenclature Committee for Factors of the HLA System in November, 2006.</p>