Analysis of two novel variants of FUT1 gene in a Chinese family with para-Bombay phenotype / 中华医学遗传学杂志

OBJECTIVE@#To study rare para-Bombay blood type Bm@*METHODS@#ABO and H phenotype of the proband and her pedigree were determined with serological methods. The ABO genotype was analyzed by polymerase chain reaction-sequence specific primer(PCR-SSP). The full coding region of alpha-l,2 fucosyltransferase (FUT1) gene of the pedigree was analyzed by polymerase chain reaction and direct sequencing of the amplified fragments. The haplotype of the FUT1 gene were analyzed by cloning sequencing.@*RESULTS@#The rare para-Bombay blood type Bm@*CONCLUSION@#Two new alleles of FUT1 gene (h

Identification of a novel allele HLA-B*37:04:02 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To report on a novel HLA allele identified in a Chinese individual.</p><p><b>METHODS</b>Routine HLA genotyping was carried out with polymerase chain reaction-sequence specific oligonucleotide probes (PCR-SSOP) and sequencing-based typing (SBT).</p><p><b>RESULTS</b>A new HLA allele has been identified. The sequence differed from its closest allele B*37:04:01 at nt618 (GCG→GCA), which resulted in no change of codon 206.</p><p><b>CONCLUSION</b>A novel HLA allele HLA-B*37:04:02 (GU391034) has been identified and officially named by the WHO Nomenclature Committee.</p>

Identification of a novel HLA allele HLA-DRB1*09:01:07 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify and confirm a novel HLA allele in a Chinese Han individual.</p><p><b>METHODS</b>HLA typing was performed by polymerase chain reaction-sequence specific oligonucleotide probes (PCR-SSOP) for HLA-A, -B and -DRB1 in a registered donor of China Marrow Donor Program(CMDP). Sequencing-based typing (SBT) was carried out to further confirm the novel allele of HLA-DRB1.</p><p><b>RESULTS</b>The SSOP result showed HLA-DRB1*09:03,15GEP, but an unusual pattern that could not be defined indicated potential presence of a novel allele. The SBT result showed the novel sequence has 1nt change from its closest allele DRB1*09:01:02 at nt306 where C to T(codon 73 GCC to GCT) resulting in no amino acid change. 73A was not changed.</p><p><b>CONCLUSION</b>A novel HLA allele, HLA-DRB1*09:01:07, has been identified and named officially by WHO Nomenclature Committee for Factors of the HLA System.</p>

Identification of a novel human leukocyte antigen allele, HLA-A * 31 ∶ 22 / 中华微生物学和免疫学杂志

Objective To identify and confirm a novel HLA allele.Methods A new human leukocyte antigen A allele was found during routine HLA genotyping by polymerase chain reaction-sequence specific oligonucleotide probes(PCR-SSOP) and sequencing-based typing (SBT).HLA-A locus was amplified from exon 1 through exon 8,and the nucleotide sequence of exon 2 to exon 4 for HLA-A were sequenced in both directions.Results The novel HLA-A * 31 allele is identical to A * 31 ∶ 01 ∶ 02 with an exception of one base substitution at position 245 of exon 2 where an ' A' change to ' C' resulting in codon 82 changed from GAG to GCG.Conclusion A novel HLA allele,A * 31 ∶ 22,was identified,and was named officially by the WHO Nomenclature Committee for factors of the HLA system.

A novel HLA allele, HLA-B * 40:74, detected in a Chinese individual / 中华微生物学和免疫学杂志

ObjectiveTo identify and confirm a novel HLA allele in a Chinese individual.MethodsA new HLA allele was found during routine HLA genotyping by polymerase chain reaction-sequence specific oligonucleotide probes (PCR-SSOP) and sequencing-based typing (SBT).ResultsThe new sequence differs from HLA-B * 40:01:01 by two nucleotide substitutions in exon 2 at positions 103 (G＞T) and 106 (A＞G) ; These mutations result in two codon changes:at codon 35 (GCC＞TCC) where an alanine (A) is substituted by a serine(S) and at codon 36(ATG＞GTG) where a methionine(M) is substituted by a valine (V).ConclusionA novel HLA allele,HLA-B * 40:74,was identified,and was named officially by the WHO Nomenclature Committee (HWS10004518 - EF458488).

Identification of a new human leukocyte antigen A allele, HLA-A*3020 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify a novel human leukocyte antigen (HLA) A allele.</p><p><b>METHODS</b>A new HLA-A 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-A*30 allele was identical to A*300101 except that a nucleotide C at position 294 of exon 2 is substituted by A, resulting in codon 98 changed from GAC (D) to GAA (E).</p><p><b>CONCLUSION</b>A new HLA allele, HLA-A*3020, was identified, and was named officially by the WHO Nomenclature Committee.</p>

Identification of a novel HLA allele HLA-B*9526 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>A novel human leukocyte antigen-B (HLA-B) allele, B*9526, was identified and analyzed by sequencing-based method in a Chinese donor.</p><p><b>METHODS</b>HLA typing was performed by PCR-sequence-specific oligonucleotide (SSO). Molecular cloning and DNA sequencing were used to identify the sequence of the potential novel allele and the difference between this new allele and other known alleles were analyzed.</p><p><b>RESULTS</b>HLA genotyping of one sample gave different results. The sequencing result showed HLA-B alleles of the proband as B*5403 and a novel allele. The nucleotide sequence of the novel allele was different from all known B alleles and harbored one nucleotide change from the closest matching allele B*1507 at nucleotide 425 (A to G) in exon 3, resulting in an amino acid change from Y (TAC) to C (TGC) at codon 142.</p><p><b>CONCLUSION</b>A novel HLA allele was identified and officially designated as HLA-B*9526 by WHO Nomenclature Committee for Factors of the HLA System.</p>