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.

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).

OBJECTIVETo identify a novel human leukocyte antigen (HLA) A allele.

METHODSA 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).

RESULTSThe 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).

CONCLUSIONA new HLA allele, HLA-A*3020, was identified, and was named officially by the WHO Nomenclature Committee.

Alleles ; Base Sequence ; HLA-A Antigens ; chemistry ; genetics ; Humans ; Molecular Sequence Data ; Sequence Alignment ; Sequence Analysis, DNA

OBJECTIVEA novel human leukocyte antigen-B (HLA-B) allele, B*9526, was identified and analyzed by sequencing-based method in a Chinese donor.

METHODSHLA 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.

RESULTSHLA 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.

CONCLUSIONA novel HLA allele was identified and officially designated as HLA-B*9526 by WHO Nomenclature Committee for Factors of the HLA System.

Alleles ; Amino Acid Sequence ; Base Sequence ; China ; Cloning, Molecular ; Genotype ; HLA-B Antigens ; genetics ; HLA-B15 Antigen ; Humans ; Male ; Molecular Sequence Data ; Sequence Analysis, DNA

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
ABO Blood-Group System/genetics* ; China ; Female ; Fucosyltransferases/genetics* ; Genotype ; Humans ; Phenotype

OBJECTIVETo identify and confirm a novel HLA allele in a Chinese Han individual.

METHODSHLA 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.

RESULTSThe 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.

CONCLUSIONA novel HLA allele, HLA-DRB1*09:01:07, has been identified and named officially by WHO Nomenclature Committee for Factors of the HLA System.

Base Sequence ; Blood Donors ; HLA-DRB1 Chains ; genetics ; Histocompatibility Testing ; methods ; Humans ; Molecular Sequence Data ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Sequence Analysis, DNA

OBJECTIVETo report on a novel HLA allele identified in a Chinese individual.

METHODSRoutine HLA genotyping was carried out with polymerase chain reaction-sequence specific oligonucleotide probes (PCR-SSOP) and sequencing-based typing (SBT).

RESULTSA 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.

CONCLUSIONA novel HLA allele HLA-B*37:04:02 (GU391034) has been identified and officially named by the WHO Nomenclature Committee.

Alleles ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Genotype ; HLA-B Antigens ; genetics ; Humans ; Molecular Sequence Data

OBJECTIVE: To explore clinical rules based on the big data of the emergency department of the Second Affiliated Hospital of Guangzhou Medical University, and to establish an integrated platform for clinical research in emergency, which was finally applied to clinical practice. METHODS: Based on the hospital information system (HIS), laboratory information system (LIS), emergency specialty system, picture archiving and communication systems (PACS) and electronic medical record system of the Second Affiliated Hospital of Guangzhou Medical University, the structural and unstructured information of patients in the emergency department from March 2019 to April 2022 was extracted. By means of extraction and fusion, normalization and desensitization quality control, the database was established. In addition, data were extracted from the database for adult patients with pre screening triage level III and below who underwent emergency visits from March 2019 to April 2022, such as demographic characteristics, vital signs during pre screening triage, diagnosis and treatment characteristics, diagnosis and grading, time indicators, and outcome indicators, independent risk factors for poor prognosis in patients were analyzed. RESULTS: (1) The data of 338 681 patients in the emergency department of the Second Affiliated Hospital of Guangzhou Medical University from March 2019 to April 2022 were extracted, including 15 modules, such as demographic information, triage information, visit information, green pass and rescue information, diagnosis information, medical record information, laboratory examination overview, laboratory information, examination information, microbiological information, medication information, treatment information, hospitalization information, chest pain management and stroke management. The database ensured data visualization and operability. (2) Total 140 868 patients with pre-examination and triage level III and below were recruited from the emergency department database. The gender, age, type of admission to the hospital, pulse, blood pressure, Glasgow coma scale (GCS) and other indicators of the patients were included. Taking emergency admission to operating room, emergency admission to intervention room, emergency admission to intensive care unit (ICU) or emergency death as poor prognosis, the poor prognosis prediction model for patients with pre-examination and triage level III and below was constructed. The receiver operator characteristic curve and forest map results showed that the model had good predictive efficiency and could be used in clinical practice to reduce the risk of insufficient emergency pre-examination and triage. CONCLUSIONS The establishment of high-quality clinical database based on big data in emergency department is conducive to mining the clinical value of big data, assisting clinical decision-making, and improving the quality of clinical diagnosis and treatment.
Adult ; Humans ; Big Data ; Emergency Service, Hospital ; Triage/methods* ; Intensive Care Units ; Hospitalization ; Retrospective Studies