Disease Susceptibility ; HLA-DQ beta-Chains ; genetics ; HLA-DRB1 Chains ; genetics ; Humans ; Pneumoconiosis ; genetics ; Polymorphism, Genetic

OBJECTIVETo discriminate and analyze the relative frequencies of alleles in HLA-DRB1*12:01:01G(HLA-DRB1*12:01:01/12:06/12:10/12:17) and HLA-DRB1*14:01:01G (DRB1*14:01:01/14:54) groups and assess their associations with HLA-DRB3 and HLA-DQB1 loci.

METHODSA total of 115 DNA samples previously typed as HLA-DRB1*12:01:01G and 108 samples from HLA-DRB1*14:01:01G were selected. DNA sequences for exons 1 to 3 of the HLA-DRB1 locus were analyzed for HLA-DRB1*12:01:01G, and exons 2 to 3 were analyzed for HLA-DRB1*14:01:01G by polymerase chain reaction sequence-based typing (PCR-SBT). Genotyping of HLA-DRB3 and HLA-DQB1 were achieved by PCR-SBT.

RESULTSAmong 115 samples previously typed as HLA-DRB1*12:01:01G, 101 (87.8%) were confirmed as HLA-DRB1*12:01:01 and 14 (12.2%) were HLA-DRB1*12:10, but HLA-DRB1*12:06 and HLA-DRB1*12:17 alleles were not identified. For 108 samples previously typed as HLA-DRB1*14:01:01G, all were typed as HLA-DRB1*14:54. HLA-DRB1*12:01:01 was linked with HLA-DRB3*01:01:02 and HLA-DQB1*03:01, while HLA-DRB1*12:10 was strongly linked with HLA-DRB3*02:02:01 and HLA-DQB1*03:01. HLA-DRB1*14:54 was strongly linked with HLA-DRB3*02:02:01 and two different HLA-DQB1*05:02, *05:03 alleles.

CONCLUSIONHLA-DRB1*12:01:01 was more prevalent than HLA-DRB1*12:10 in the HLA-DRB1*12:01:01G group, and HLA-DRB1*14:54 was the dominant allele for HLA-DRB1*14:01:01G.

Alleles ; Exons ; Gene Frequency ; Genotype ; HLA-DQ beta-Chains ; genetics ; HLA-DRB1 Chains ; genetics ; HLA-DRB3 Chains ; genetics ; Humans

OBJECTIVETo investigate the HLA-DRB1, DQB1 allele polymorphism in Kunming Yi nationality population.

METHODSHLA-DRB1, DQB1 DNA types in 70 healthy children of Yi nationality in Kunming were analyzed by polymerase chain reaction with sequence specific primer (PCR-SSP).

RESULTSTwelve alleles at HLA-DRB1 locus were observed in the 70 children: the alleles with gene frequencies higher than 10% were HLA-DRB1*12(33.57%), DRB1*0901(11.43%), DRB1*04(11.43%); the alleles with gene frequencies between 10% and 5% were HLA-DRB1*01(8.57%), DRB1*11(7.86%), DRB1*14(7.14%), DRB1*15(7.14%), DRB1*08(5%); the alleles with gene frequencies lower than 5% were HLA-DRB1*03(2.86%), DRB1*13(2.14%), DRB1*07(1.43%), DRB1*16(1.43%). Seven alleles at HLA-DQB1 locus were observed in the 70 children: the alleles with gene frequencies higher than 10% were HLA-DQB1*0301(45%), DQB1*05(22.14%), DQB1*0303(12.14%); the alleles with gene frequencies between 10% and 5% were HLA-DQB1*04(6.43%), DQB1*06(6.43%); the alleles with gene frequencies lower than 5% were HLA-DQB1*0201(4.29%) and DQB1*0302(3.57%).

CONCLUSIONThe distribution of HLA-DRB1, DQB1 allele polymorphism in the Kunming Yi nationality population is distinctive. It is neither like that in the South Han population nor like that in the North Han population.

Alleles ; China ; HLA-DQ Antigens ; genetics ; HLA-DQ beta-Chains ; HLA-DR Antigens ; genetics ; HLA-DRB1 Chains ; Humans ; Polymorphism, Genetic

OBJECTIVETo investigate the genetic association between cirrhosis and polymorphisms in the genes encoding major histocompatibility complex, class II (HLA)-DR beta 1 (DRB1) and HLA-DP beta 1 (DPB1).

METHODSA population of 168 parent/offspring trios, in which the proband had a diagnosis of hepatitis B virus infection with clinical signs of cirrhosis.The HLA-DRB1 and DPB 1 gene polymorphisms of rs24755213 and rs202176660 were detected by PCR and single nucleotide polymorphism (SNP) genotyping.Correlation analysis and haplotype relative risk analysis were carried out.

RESULTSA/G genotypes were detected in rs24755213 of HLA-DRB1 and C/T genotypes were detected in rs202176660 of DPB1.The rs24755213 allele was associated with cirrhosis (P=0.014), with the G allele identified as a protective factor (Z=-2.33) and the A allele identified as a hazard factor (Z=2.33).The rs202176660 allele was also associated with cirrhosis (P =0.026), with the T allele identified as a protective factor (Z=-2.06) and the C allele identified as a hazard factor (Z=2.06).The haplotypes of G/T and A/C in rs24755213 and rs202176660 respectively were associated with cirrhosis (P =0.037 and 0.002, Z=-2.12 and 2.09 respectively).

CONCLUSIONIn this group of Chinese patients with hepatitis B virus-related cirrhosis, polymorphisms in the HLA-DRB 1 and DPB1 genes were associated with cimhosis.

Alleles ; Genotype ; HLA-DP beta-Chains ; genetics ; HLA-DRB1 Chains ; genetics ; Haplotypes ; Humans ; Liver Cirrhosis ; genetics ; Polymorphism, Genetic

Oligonucleotide microarray is developed on the basis of hybridization on the solid substrate. The pre-activated glass substrates and the terminal modification of the oligonucleotides are the two important factors in the process of fabrication for microarray. In order to compare the hybridization signal intensity of the different terminal modified oligonucleotide probes, the eight kinds of oligonucleotides were designed according to the sequence of HLA-DRB1-12, including the amino modified oligonucleotides with PEG spacer and the one without spacer, the phosphorothioate modified oligonucleotides with PEG spacer and the one without spacer. They were modified on 5' terminal and 3' terminal, respectively. In addition, the oligonucleotides probes with the internal spacer of different number of PEG were designed to observe the relationship between the spacer of PEG and the hybridization efficiency. These probes were respectively fixed on the bromoacetylation activated and glutaraldehyde activated slides to manufacture the two kinds of microarray which hybridized with the fluorescence labeled PCR product of HLA-DRB1-12 gene. The results from the study demonstrated that the signal intensity of 3' amino-modified probes with the internal spacer of different number of PEG on the bromoacetylation activated slides was stronger than the others. It is concluded that the 3' amino-modified oligonucleotide with an internal PEG spacer and the bromoacetylation activated slide enhanced the hybridization efficiency and were worthy to be proposed for the fabrication of HLA microarray or other kinds of microarrays for detecting fluorescence labeled PCR product in the future study.
HLA-DR Antigens ; genetics ; HLA-DRB1 Chains ; Humans ; Oligonucleotide Array Sequence Analysis ; methods

OBJECTIVE: To investigate the recombinations within the human leukocyte antigen (HLA) region in two families. METHODS: Genomic DNA was extracted from the peripheral blood specimens of the different family members. HLA-A, -B, -C, -DRB1, -DQB1 and -DPB1 loci were genotyped using polymerase chain reaction-sequence specific oligonucleotide probing technique (PCR-SSO) and next-generation sequencing technique. HLA haplotype was determined by genetic analysis of the pedigree. RESULTS: The haplotypes of HLA-A*11:01~C*03:04~B*13:01~DRB1*12:02~DQB1*03:01~DPB1*05:01:01G and HLA-A*03:01~C*04:01~B*35:03~DRB1*12:01~DQB1*03:01~DPB1*04:01:01G in the family 1 were recombined between HLA-B and HLA-DRB1 loci, which formed the haplotype of HLA-A*11:01~C*03:04~B*13:01~DRB1* 12:01~DQB1*03:01~DPB1*04:01:01G. The haplotypes of HLA-A *02:06~C*03:03~B*35:01~DRB1*08:02~DQB1*04:02~ DPB1*13:01:01G and HLA-A *11:01~C*07:02~B*38:02~DRB1*15:02~DQB1*05:01~DPB1*05:01:01G in the family 2 were recombined between HLA-DQB1 and HLA-DPB1 loci, which formed the haplotype of HLA-A*02:06~C*03:03~B*35:01~ DRB1*08:02~DQB1*04:02~DPB1*05:01:01G. CONCLUSION The gene recombination events between HLA-B and -DRB1, HLA-DQB1 and -DPB1 loci were found respectively in two Chinese Han families.
Humans ; Gene Frequency ; HLA-DQ beta-Chains/genetics* ; HLA-B Antigens/genetics* ; Histocompatibility Antigens Class I/genetics* ; Haplotypes ; HLA-A Antigens/genetics* ; HLA-DRB1 Chains/genetics* ; Recombination, Genetic ; Alleles

OBJECTIVETo investigate and compare the distribution of HLA-DRB1 * 14 alleles between the southern and northern Chinese Han populations.

METHODSHuman leukocyte antigen (HLA)-DRB1 alleles of 436 southern and 713 northern Chinese Han bone marrow volunteers were genotyped by polymerase chain reaction (PCR)-sequence-based-typing (SBT) method, among them the DRB1 * 1401/1439/1454 ambiguous allele pairs were identified using DRB1 * 14 high-resolution PCR-sequence specific primer (SSP) kits. Also, the clinic samples previously reported as DRB1 * 1401 were re-genotyped using the same PCR-SSP kits. The allelic distribution of DRB1 * 14 in southern and northern Chinese Han population were compared by chi-square test method.

RESULTSEighty-one ambiguous allele pairs of DRB1 * 1401/1439/1454 and 54 clinic samples previously reported as DRB1 * 1401 were all identified as DRB1 * 1454. Among the 436 Southern Han donors, six subtypes of DRB1 * 14 allele were observed including DRB1 * 1454 (69.57%), DRB1 * 1402 (1.45%), DRB1* 1403 (1.45%), DRB1 * 1404 (4.35%), DRB1 * 1405 (20.29%) and DRB1 * 1407 (2.90%). In the 713 northern Han donors, a total of seven subtypes were observed including DRB1 * 1454 (35.48%), DRB1 * 1403 (12.90%), DRB1 * 1404 (6.45%), DRB1 * 1405 (37.63%), DRB1 * 1407 (4.30%), DRB1 * 1411 (1.08%) and DRB1 * 1412 (2.15%).

CONCLUSIONDRB1 * 1454 and DRB1 * 1405 were the most common alleles of HLA-DRB1 * 14 in Chinese Han populations. The distribution of HLA-DRB1 * 14 differ significantly between the southern and northern Chinese Han population, while DRB1 * 1405 showed similar distribution pattern in the two populations but DRB1 * 1454 had higher frequency in southern than in northern Chinese Han population.

Alleles ; Asian Continental Ancestry Group ; ethnology ; genetics ; Genotype ; HLA Antigens ; genetics ; HLA-DR Antigens ; genetics ; HLA-DRB1 Chains ; Humans

OBJECTIVE: To analyze the characteristics of allelic and haplotypic polymorphisms of human leukocyte antigens at HLA-A, -B, -C, DRB1 and DQB1 loci in Guangxi Zhuang population. METHODS: Polymerase chain reaction-sequence based typing (PCR-SBT) was used to detect. The five loci (HLA-A, -B, -C, -DRB1, -DQB1) in 350 unrelated Zhuang ethnic individual from Guangxi region. Allelic and haplotypic frequencies were calculated by using Arlequin software 3.5.2.2. Phylogeny tree were constructed by using MEGA software 6.0, and SPSS software was used for principal component analysis. RESULTS: Among the five loci in the population, only HLA-A and DRB1 loci were observed as departures from Hardy-Weinberg expectations. A total of 19 HLA-A, 42 HLA-B, 22 HLA-C, 25 HLA-DRB1 and 15 HLA-DQB1 alleles were found in 350 samples. The most highest frequent alleles were A*11: 01(28.57%), B*46: 01(14.00%), C*01: 02(18.43%), DRB1*16: 02 (15.71%）and DQB1*05: 02 (35.00%) . The most common five loci haplotype was A*33: 03-C*03: 02-B*58: 01-DRB1*03: 01-DQB1*02: 01（6.86%）. The phylogenetic tree analysis showed that Guangxi Zhuang population had a relative close genetic relationship with southern Han Chinese populations. CONCLUSION This reaserch found that the HLA-A, B, C, DRB1 and DQB1 loci are highly polymorphic in Guangxi Zhuang population.
Alleles ; China ; Gene Frequency ; HLA-A Antigens ; genetics ; HLA-B Antigens ; genetics ; HLA-DRB1 Chains ; genetics ; Haplotypes ; Humans ; Phylogeny

OBJECTIVETo investigate the relation between the susceptibility to silicosis and the polymorphism of HLA-DRB1 *, DQB1 * genes in Chinese Hans.

METHODSHLA-DRB1 * and DQB1 * gene polymorphism were tested in 48 silicosis patients and 100 normal controls by using polymerase chain reaction of sequence-specific primers (PCR-SSP).

RESULTSThe allele frequencies of DRB1 * 1401 and DQB1 * 05 in silicosis patients were significantly higher than those in normal controls (chi 2 = 5.61, P = 0.0066, RR = 17.40; chi 2 = 10.70, P = 0.0011, RR = 3.81, respectively), while the allele frequency of DRB1 * 09 was significantly lower in silicosis patients than that in controls (chi 2 = 5.70, P = 0.0187, RR = 0.21). There was a significant difference between the patient group and control group.

CONCLUSIONHLA-DRB1 * 1401 and DQB1 * 05 may be the susceptible genes and HLA-DRB1 * 09 the protection gene of silicosis, both susceptibility and protection may be related to HLA-DR gene locus. The joint action of allele genes may affect the pathogenesis of silicosis.

Gene Frequency ; Genetic Predisposition to Disease ; HLA-DQ Antigens ; genetics ; HLA-DQ beta-Chains ; HLA-DR Antigens ; genetics ; HLA-DRB1 Chains ; Humans ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Silicosis ; genetics

This study was aimed to identify a novel HLA-DRB1 allele from a Chinese potential hemopoietic stem cell donor of Northeast China. A rare HLA-DRB1 allele was initially detected by Luminex PCR-SSO typing, then the sample was sequenced by sequence-based typing (SBT) and the alignments of sample's alleles was identified by single allele-specific sequencing strategy. The results revealed the existence of a new allele which differs from the closest matching allele DRB1*03:06 by a single nucleotide substitution at position 239, where C→G in exon 2, resulting in an amino acid exchange from Thr to Arg at codon 51. It is concluded that a novel allele has been confirmed and its name DRB1*03:80 is officially assigned by the WHO Nomenclature Committee in February 2012.
Alleles ; Asian Continental Ancestry Group ; genetics ; HLA-DRB1 Chains ; genetics ; Humans ; Male ; Sequence Analysis, DNA