S. Tao

Distribution of ABO blood group allele and identification of three novel alleles in the Chinese Han population

Background  The ABO blood group system is clinically important in blood transfusion. The molecular characterization of ABO blood group has clinical and anthropological importance. Here, we determined the ABO alleles distribution and identified three novel alleles in the Chinese Han population.

Simultaneous genotyping of human platelet antigen-1 to 17w by polymerase chain reaction sequence-based typing.

Background and Objectives  Genotyping for human platelet antigen (HPA) systems is required in the investigation of patients with suspected HPA antibodies and for the provision of compatible blood products from HPA‐typed donors. Here, we set up a polymerase chain reaction sequence‐based typing method for simultaneous genotyping of HPA‐1 to 17w (PCR‐SBT).

Distribution of MICB diversity in the Zhejiang Han population: PCR sequence-based typing for exons 2–6 and identification of five novel MICB alleles

The polymorphism of major histocompatibility complex class I chain-related gene B (MICB) and variations in MICB alleles in a variety of populations have been characterized using several genotyping approaches. In the present study, a novel polymerase chain reaction sequence-based typing (PCR-SBT) method was established for the genotyping of MICB exons 2–6, and the allelic frequency of MICB in the Zhejiang Han population was investigated. Among 400 unrelated healthy Han individuals from Zhejiang Province, China, a total of 20 MICB alleles were identified, of which MICB*005:02:01, MICB*002:01:01, and MICB*004:01:01 were the most predominant alleles, with frequencies of 0.57375, 0.1225, and 0.08375, respectively. Nine MICB alleles were detected on only one occasion, giving a frequency of 0.00125. Of the 118 distinct MICB ∼ HLA-B haplotypes identified, 42 showed significant linkage disequilibrium (P < 0.05). Haplotypes MICB*005:02:01 ∼ B*46:01, MICB*005:02:01 ∼ B*40:01, and MICB*008 ∼ B*58:01 were the most common haplotypes, with frequencies of 0.0978, 0.0761, and 0.0616, respectively. Five novel alleles, MICB*005:07, MICB*005:08, MICB*027, MICB*028, and MICB*029 were identified. Compared with the MICB*005:02:01 sequence, a G > A substitution was observed at nucleotide position 210 in MICB*005:07, and a 1,134 T > C substitution in MICB*005:08 and an 862 G > A substitution in MICB*027 were detected. In addition, it appears that MICB*028 probably arose from MICB*004:01:01 with an A to G substitution at position 1,147 in exon 6. MICB*029 had a G > T transversion at nucleotide position 730 in exon 4, compared with that of MICB*002:01:01. On the basis of the new PCR-SBT assay, these observed results demonstrated MICB allelic variations in the Zhejiang Han population.

Identification of a novel HLA-C*07:02:25 allele by polymerase chain reaction sequence-based typing in a Chinese leukemia patient

Nucleotide sequence of HLA-C*07:02:25 allele was different from that of HLA-C*07:02:01:01 by a single nucleotide substitution at position 78C>G.

HLA-A, -B and -DRB1 allele and haplotype frequencies of 8333 Chinese Han from the Zhejiang province, China

The distribution of human leucocyte antigen (HLA) allele and haplotype is varied among different ethnic populations. In this study, HLA‐A, ‐B and ‐DRB1 allele and haplotype frequencies were determined in 8333 volunteer bone marrow donors of Zhejiang Han population using the polymerase chain reaction sequence‐based typing. A total of 52 HLA‐A, 96 HLA‐B and 61 HLA‐DRB1 alleles were found. Of these, the top three frequent alleles in HLA‐A, HLA‐B and HLA‐DRB1 loci, respectively, were A*11:01 (24.53%), A*24:02 (17.35%), A*02:01 (11.58%); B*40:01 (15.67%), B*46:01 (11.87%), B*58:01 (9.05%); DRB1*09:01 (17.54%),DRB1*12:02 (9.64%) and DRB1*08:03 (8.65%). A total of 171 A‐B‐DRB1 haplotypes with a frequency of >0.1% were presented and the five most common haplotypes were A*33:03‐B*58:01‐ DRB1*03:01, A*02:07‐B*46:01‐DRB1*09:01, A*30:01‐B*13:02‐DRB1*07:01, A*33:03‐B*58:01‐RB1*13:02 and A*11:01‐B*15:02‐DRB1*12:02. The information will be useful for selecting unrelated bone marrow donors and for anthropology studies and pharmacogenomics analysis.

A novel HLA allele, HLA-C*01:02:18, was identified by polymerase chain reaction sequence-based typing in a Chinese leukemia patient.

HLA-C*01:02:18 shows one nucleotide difference from that of HLA-C*01:02:01 by a single nucleotide substitution at position 474 C>T in exon 3.

Human platelet antigen allele frequencies and new mutations on platelet glycoprotein genes in the Chinese Han population

Background and Objectives: The frequencies of human platelet antigens (HPAs) vary between different populations. In this study, we determined the HPA allele frequencies in the Chinese Han population and identified situation of incompatibility possibly leading to alloimmunisation.

Identification of a novel HLA‐DQB1*03:38 allele by polymerase chain reaction sequence‐based typing in a Chinese bone marrow donor

HLA-DQB1*03:38 differs from HLA-DQB1*03:03:02:01 at nucleotide position 184 T>C in exon 2.

Identification of two novel HLA-A alleles, HLA-A*03:181 and HLA-A*03:229 in Chinese individuals.

HLA‐A*03:181 and HLA‐A*03:229 differ from HLA‐A*03:01:01:01 by one and three nucleotide substitutions, respectively.

HLA-A locus allelic dropout in Sanger sequence-based typing due to the single nucleotide polymorphism of exon 1.

The DNA‐based method is used widely for HLA genotyping in routine work, but some allele may be dropout in the genotyping procedure. Here, we reported a case with HLA‐A allele dropout in the Sanger PCR‐SBT test. The initial PCR‐SBT method with a commercial agent kit was not characterized, and the result of Luminex technology indicated the dropout as a HLA‐A*02 allele. Subsequently, the sequences of exons 2–4 were fully matched with the A*02:07 and A*11:01:01 by allele group‐specific primer amplification PCR‐SBT. On further analysis, a novel allele A*02:07:07 was identified, which has one nucleotide difference from A*02:07:01 at position 6 C>G of exon 1. According to the sequencing for 5′‐UTR to 3′‐UTR, the novel single nucleotide polymorphism of exon 1 was contributed to HLA‐A locus allele dropout in the sample. Our results indicated multiplatform analysis is necessary when a conclusive HLA type cannot be determined by a single methodology.