H.-J. Lv

Analysis for complete genomic sequence of HLA-B and HLA-C alleles in the Chinese Han population

In the present study, we have determined the complete genomic sequence and analysed the intron polymorphism of partial HLA‐B and HLA‐C alleles in the Chinese Han population. Over 3.0 kb DNA fragments of HLA‐B and HLA‐C loci were amplified by polymerase chain reaction from partial 5′ untranslated region to 3′ noncoding region respectively, and then the amplified products were sequenced. Full‐length nucleotide sequences of 14 HLA‐B alleles and 10 HLA‐C alleles were obtained and have been submitted to GenBank and IMGT/HLA database. Two novel alleles of HLA‐B*52:01:01:02 and HLA‐B*59:01:01:02 were identified, and the complete genomic sequence of HLA‐B*52:01:01:01 was firstly reported. Totally 157 and 167 polymorphism positions were found in the full‐length genomic sequence of HLA‐B and HLA‐C loci respectively. Our results suggested that many single nucleotide polymorphisms existed in the exon and intron regions, and the data can provide useful information for understanding the evolution of HLA‐B and HLA‐C alleles.

HLA-A*31:56 and HLA-A*31:59 were identified by polymerase chain reaction sequence-based typing in Chinese individuals

Two human leukocyte antigen (HLA)-A*11 variant alleles were identified in Chinese individuals. HLA-A*1136 shows only one nucleotide difference from A*110101 in exon 3 at position 368, resulting in an amino acid change from His to Cys at codon 99. HLA-A*1138 has two nucleotides change at positions 570 and 571 compared with A*110201, resulting in amino acids change from Glu to Asp at codon 166 and Trp to Gly at codon 167.

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-B*35:42:02 allele in a Chinese bone marrow donor.

HLA-A*11:57 allele was different from HLA-A*11:16 by single nucleotide substitution at codon 145(CAC>CGC), resulting in one amino acid change His to Arg.

Identification of the novel HLA-B*15:257 allele by polymerase chain reaction sequence-based typing in a Chinese individual.

HLA-B*15:257 has one nucleotide change in exon 2 at position 232C>G from B*15:01:01:01.

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.

A novel HLA allele, HLA-B*40:227, was identified by polymerase chain reaction sequence-based typing in a Chinese individual.

HLA-DRB1*11:119 has one nucleotide difference from HLA-DRB1*11:25 at position 286 T>A in exon 2.

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.

Characterization of a novel allele, HLA‐DQB1*06:47

HLA-DQB1*06:47 has one base substitution at position 618C>A in exon 3 from HLA-DQB1*06:02:01.

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.