Zhejiang Han Population Research Articles

The characteristic of HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-DRB3/4/5, HLA-DQA1, HLA-DQB1, HLA-DPA1, and HLA-DPB1 alleles in Zhejiang Han population.

The Zhejiang Han population, a subgroup of the Southern Han ethnic group, resides in Zhejiang Province, situated on the southeast coast of China. In this study, we conducted HLA genotyping for 813 voluntary umbilical cord blood donors from the Zhejiang Han population, targeting 11 HLA loci, namely HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-DRB3/4/5, HLA-DQA1, HLA-DQB1, HLA-DPA1, and HLA-DPB1, using the next-generation sequencing method. Our analysis of the alleles and haplotypes revealed a high degree of polymorphism within these loci. A total of 289 unique HLA alleles were identified, with the HLA-B locus exhibiting the most significant diversity, while HLA-DRB4 displayed the lowest variation. Due to the inherent limitations of the sequencing method, some unresolvable alleles in the specific loci, such as HLA-DRB1, HLA-DPA1, and HLA-DPB1, were assigned as G group designation. In our comprehensive analysis across all 11 HLA loci, a total of 1204 haplotypes were estimated. The distribution of these alleles was similar to those of the Chinese Southern Han population while highly different from the Caucasian population. These findings contribute to a deeper understanding of the genetic characteristics of HLA loci within the Chinese Southern Han population.

High-resolution KIR and HLA genotyping in three Chinese ethnic minorities reveals distinct origins.

Polymorphism of killer-cell immunoglobulin-like receptors (KIRs) and their HLA class I ligands impacts the effector activity of cytotoxic NK cell and T cell subsets. Therefore, understanding the extent and implications of KIR and HLA class I genetic polymorphism across various populations is important for immunological and medical research. In this study, we conducted a high-resolution investigation of KIR and HLA class I diversity in three distinct Chinese ethnic minority populations. We studied the She, Yugur, and Tajik, and compared them with the Zhejiang Han population (Zhe), which represents the majority Southern Han ethnicity. Our findings revealed that the Tajik population exhibited the most diverse KIR copy number, allele, and haplotype diversity among the four populations. This diversity aligns with their proposed ancestral origin, closely resembling that of Iranian populations, with a relatively higher presence of KIR-B genes, alleles, and haplotypes compared with the other Chinese populations. The Yugur population displayed KIR distributions similar to those of the Tibetans and Southeast Asians, whereas the She population resembled the Zhe and other East Asians, as confirmed by genetic distance analysis of KIR. Additionally, we identified 12.9% of individuals across the three minority populations as having KIR haplotypes characterized by specific gene block insertions or deletions. Genetic analysis based on HLA alleles yielded consistent results, even though there were extensive variations in HLA alleles. The observed variations in KIR interactions, such as higher numbers of 2DL1-C2 interactions in Tajik and Yugur populations and of 2DL3-C1 interactions in the She population, are likely shaped by demographic and evolutionary mechanisms specific to their local environments. Overall, our findings offer valuable insights into the distribution of KIR and HLA diversity among three distinct Chinese ethnic minority populations, which can inform future clinical and population studies.

Association of polymorphisms in FBN1, MYH11, and TGF-β signaling-related genes with susceptibility of sporadic thoracic aortic aneurysm and dissection in the Zhejiang Han population.

Sporadic thoracic aortic aneurysm and dissection (sTAAD) is a complicated vascular disease with a high mortality rate. And its genetic basis has not been fully explored. Here, 122 sTAAD patients and 98 healthy individuals were recruited, and 10 single nucleotide polymorphisms were selected and analyzed (FBN1 rs10519177, rs1036477, rs2118181, MYH11 rs115364997, rs117593370, TGFβ1 rs1800469, TGFβ2 rs900, TGFβR2 rs764522, rs1036095, and rs6785385). Moreover, multiple logistic regression analysis was used to evaluate gene-environment interactions. We identified that TGFβR2 rs1036095 dominant model CC + CG genotype (GT) (P = 0.004) may be a factor of increased risk of sTAAD, especially for women. FBN1 rs1036477 recessive model AA GT (P = 0.009) and FBN1 rs2118181 dominant model CC + CT GT (P = 0.009) were correlated to an increased death rate in sTAAD men patients. Gene-environment interactions indicated TGFβR2 rs1036095 dominant model (CC + CG)/GG to be a higher-risk factor for sTAAD (odds ratio = 3.255; 95% confidence interval: 1.324-8.000, P = 0.01). TGFβR2 rs1036095, FBN1 rs1036477, and FBN1 rs2118181 were identified as factors of increased risk of sTAAD. Gene-environment interactions were associated with the risk of sTAAD.

HLA-A*02:06 allele may be susceptible to myelodysplastic syndrome in Zhejiang Han population, China.

The association between HLA loci and haematological malignancy has been reported in certain populations. However, there are limited data for HLA loci at a high-resolution level with haematological malignancy in China. In this study, a total of 1115 patients with haematological malignancies (including 490 AML, 410 acute lymphoblastic leukaemia (ALL), 122 myelodysplastic syndrome [MDS] and 93 non-Hodgkin's lymphoma [NHL]) and 1836 healthy individuals as a control group in the Han population of Zhejiang Province, China, were genotyped for HLA-A, HLA-C, HLA-B, HLA-DRB1 and HLA-DQB1 loci at high resolution. The possible association between HLA alleles and haplotypes and haematologic malignancy was analysed. The allele frequencies (AFs) of HLA-A*02:05, HLA-A*02:06, HLA-A*32:01, HLA-B*35:03, HLA-B*54:01, HLA-B*55:07, HLA-DRB1*04:05, HLA-DRB1*15:01, HLA-DQB1*04:01 and HLA-DQB1*06:02 in the MDS patients were much higher than those in the control group (P<0.05), while the AFs of HLA-C*07:02, HLA-DRB1*03:01, HLA-DRB1*14:54, HLA-DQB1*02:01 and HLA-DQB1*05:03 were obviously lower than those in the control group (p < .05). Interestingly, the differences in these HLA alleles in patients with MDS were not significant after applying Bonferroni correction (Pc>.05), except for HLA-A*02:06 (Pc<.01). There were 13, 6 and 10 HLA alleles with uncorrected significant differences (p < .05) among patients with AML, ALL and NHL, respectively, compared with those in the control group, but the differences in these HLA alleles were not significant after correction (Pc>.05). Compared to those of the control group, there were some haplotypes over 1.00% frequency in patients with AML, MDS and NHL patients with uncorrected significant differences (p < .05). However, none of them showed a significant difference after correction as well (Pc>.05). The study reveals that HLA-A*02:06 may lead to susceptibility to MDS, but none of the HLA alleles were associated with AML, ALL or NHL after correction. These data will help to further understand the role of HLA loci in the pathogenesis of haematological malignancy in China.

The polymorphism of HLA-A, -C, -B, -DRB3/4/5, -DRB1, -DQB1 loci in Zhejiang Han population, China using NGS technology.

The distributions of HLA allele and haplotype are various in the populations. Currently, the data for HLA alleles and haplotypes at three fields resolution level in Chinese Han population is rare. Here, the HLA alleles and haplotypes of the 1734 cord blood samples from Zhejiang Han population, China were reported at three fields resolution. All samples were randomly collected from the Zhejiang Cord Blood Bank, China. HLA-A, -B, -C, -DRB1, -DQB1, -DRB3/4/5 loci was genotyped using next generation sequencing method. The genotypes of the samples were assigned using the HLA TypeStream Visual Software version 1.2.0. The frequency of alleles, haplotype estimation and linkage disequilibrium analysis were performed with the Arlequin software 3.5.2.2. It was found that the top three frequent alleles of HLA-A, -B, -C, -DRB1, -DQB1, -DRB3/4/5 loci were A*11:01:01 (25.81%), A*24:02:01 (16.70%), A*02:01:01 (10.61%); B*40:01:02 (15.97%), B*46:01:01 (11.48%), B*58:01:01 (7.96%); C*07:02:01 (19.03%), C*01:02:01 (17.65%), C*03:04:01 (10.41%); DRB1*09:01:02G (17.96%), DRB1*12:02:01 (9.57%), DRB1*08:03:02 (9.54%); DQB1*03:01:01G (21.05%), DQB1*03:03:02 (19.15%), DQB1*06:01:01G (12.08%); DRB4*01:03:01 (25.72%), DRB3*02:02:01 (20.27%), DRB5*01:01:01 (10.96%), respectively. A total of 1528 distinct A∼C∼B∼DRB3/4/5∼DRB1∼DQB1 haplotypes were estimated, and the top three most common haplotypes were A*33:03:01∼C*03:02:02∼B*58:01:01∼DRB3*02:02:01∼DRB1*03:01:01∼ DQB1*02:01:01 (4.02%), A*30:01:01∼C*06:02:01∼B*13:02:01∼DRB4*01:03:01∼ DRB1*07:01:01 ∼DQB1*02:02:01 (3.11%) and A*02:07:01∼C*01:02:01∼B*46:01:01 ∼DRB4*01:03:01∼DRB1*09:01:02G∼DQB1*03:03:02 (3.05%). Some alleles of different HLA loci were shown strong linkage disequilibrium. In conclusion, the data of allele and haplotype of HLA-A, -B, -C, -DRB1, -DQB1 and -DRB3/4/5 loci at three fields resolution level were obtained in Zhejiang Han population, thus contributing to analyze the HLA ploymorphism in the populations.

The distributions of HLA-A, HLA-B, HLA-C, HLA-DRB1 and HLA-DQB1 allele and haplotype at high-resolution level in Zhejiang Han population of China.

The distributions of HLA allele and haplotype are variable in different ethnic populations and the data for some populations have been published. However, the data on HLA-C and HLA-DQB1 loci and the haplotype of HLA-A, HLA-B, HLA-C, HLA-DRB1 and HLA-DQB1 loci at a high-resolution level are limited in Zhejiang Han population, China. In this study, the frequencies of the HLA-A, HLA-B, HLA-C, HLA-DRB1 and HLA-DQB1 loci and haplotypes were analysed among 3,548 volunteers from the Zhejiang Han population using polymerase chain reaction sequencing-based typing method. Totals of 51 HLA-A, 97 HLA-B, 45 HLA-C, 53 HLA-DRB1 and 27 HLA-DQB1 alleles were observed. The top three frequent alleles of HLA-A, HLA-B, HLA-C, HLA-DRB1 and HLA-DQB1 loci were A*11:01 (23.83%), A*24:02 (17.16%), A*02:01 (11.36%); B*40:01 (14.08%), B*46:01 (12.20%), B*58:01 (8.50%); C*07:02 (18.25%), C*01:02:01G (18.15%), C*03:04 (9.88%); DRB1*09:01 (17.52%), DRB1*12:02 (10.57%), DRB1*15:01 (9.70%); DQB1*03:01 (22.63%), DQB1*03:03 (18.26%) and DQB1*06:01 (10.88%), respectively. A total of 141 HLA-A-C-B-DRB1-DQB1 haplotypes with a frequency of ≥0.1% were found and the haplotypes with frequency greater than 3% were A*02:07-C*01:02:01G-B*46:01-DRB1*09:01-DQB1*03:03 (4.20%), A*33:03-C*03:02-B*58:01-DRB1*03:01-DQB1*02:01 (4.15%), A*30:01-C*06:02-B*13:02-DRB1*07:01-DQB1*02:02 (3.20%). The likelihood ratios test for the linkage disequilibrium of two loci haplotypes was revealed that the majority of the pairwise associations were statistically significant. The data presented in this study will be useful for searching unrelated HLA-matched donor, planning donor registry and for anthropology studies in China.

Association of Crohn's disease with T cell immunoglobulin and mucin domain 3 gene polymorphisms in Chinese patients

Objective: To explore the association of Crohn's disease (CD) with T cell immunoglobulin and mucin domain 3 (Tim-3) gene polymorphisms in patients of Zhejiang Han population in China. Methods: A total of 308 CD patients and 573 age- and sex-matched healthy controls were enrolled in our study. Two single nucleotide polymorphisms (SNPs) of Tim-3 (rs1036199 and rs10515746) were examined by the improved multiple ligase detection reaction technique (iMLDR). Analyses of linkage disequilibrium and haplotype were also performed by Haploview 4.2 software in all study subjects. Results: In general, the allele and genotype frequencies of Tim-3 (rs1036199 and rs10515746) were not statistically different between CD patients and the controls (all P>0.05). According to "the Montreal Classification" , CD patients were divided into different subgroups. The variant allele (C) and genotype (AC+ CC) of rs1036199 were more frequent in CD patients with penetrating diseases than in the controls (10.4% vs 1.7%, P=0.002; 20.8% vs 3.5%, P=0.023). Similar conclusions were also drawn for the variant allele (A) and genotype (CA+ AA) of rs10515746 in patients with penetrating diseases when compared with the controls (10.4% vs 2.2%, P=0.000; 20.8% vs 4.2%, P=0.033, respectively). The two SNPs of Tim-3 were in strong linkage disequilibrium (D'=1.0, r2=0.928). The haplotype (AC) formed by their wild-type alleles (A) and (C) was decreased in patients with penetrating CD compared with the controls (89.6% vs 98.3%, P=0.000). However, the haplotype (CA) formed by their variant alleles was more frequent in patients with penetrating CD than in the controls (10.4% vs 1.6%, P=0.000). Conclusions:Tim-3 (rs1036199 and rs10515746) variations might be correlated with the enhanced risk of penetrating diseases in CD patients. Furthermore, the haplotype (AC) and (CA) formed by the two SNPs might be a protective and a risky factor for penetrating CD respectively.

Simultaneous genotyping of human platelet alloantigen-1 to 28bw systems by multiplex polymerase chain reaction sequence-based typing.

Human platelet alloantigen (HPA) genotyping is important for the diagnosis and prevention the alloimmune platelet disorders. In this study, a simultaneous genotyping method for HPA-1 to -28bw systems was established using multiplex PCR-SBT and the frequencies of genotypes and alleles of HPA-1 to -28bw systems in the Zhejiang Han population were analysed. The specific primers were designed according to the nucleotide sequences of HPA-1 to 28bw systems which are located in ITGB3, GP1BA, ITGA2B, ITGA2, GP1BB and CD109, respectively. The multiplex PCR amplification systems were used, and then, the amplicons were purified and sequenced. A total of 335 healthy volunteer blood donors were detected. The genotypes of ten reference samples from Platelet Immunology Workshop of ISBT were in concordance with the known genotypes. Among the 28 HPA systems, HPA a and b alleles were found in HPA-1 to 6w, HPA-15 and HPA-21w systems in the Chinese Han population, while only HPA aa genotype was detected in the other HPA systems. The frequencies of HPA-1a and HPA-1b were 0·993 and 0·007, with 0·943 and 0·057 for HPA-2a and HPA-2b, 0·527 and 0·473 for HPA-3a and HPA-3b, 0·997 and 0·003 for HPA-4a and HPA-4b, 0·991 and 0·009 for HPA-5a and HPA-5b, 0·980 and 0·020 for HPA-6wa and HPA-6wb, 0·508 and 0·492 for HPA-15a and HPA-15b and 0·994 and 0·006 for HPA-21wa and HPA-21wb. One multiplex PCR-SBT method for HPAs was established and the data of the study could help to prevent and treat for alloimmune thrombocytopenia.

Development of the 19 X‐STR loci multiplex system and genetic analysis of a Zhejiang Han population in China

Development of the 19 X‐STR loci multiplex system and genetic analysis of a Zhejiang Han population in China

Development of the 19 X-STR loci multiplex system and genetic analysis of a Zhejiang Han population in China.

The 19 X-STRs multiplex system is a PCR-based amplification kit that facilitates simultaneous amplification of 19 X-chromosomal STR loci (i.e. DXS7423, DXS10148, DXS10159, DXS6809, DXS7424, DXS8378, DXS10164, DXS10162, DXS7132, DXS10079, DXS6789, DXS101, DXS10103,DXS10101, HPTRB, DXS10075, DXS10074, DXS10135, and DXS10134). Eleven loci were extensively used in an Investigator Qiagen Argus X-12 (DXS7423, DXS10148, DXS8378, DXS10162, DXS7132, DXS10079, DXS10103, DXS10101, HPTRB, DXS10074, and DXS10135). In this research, the multiplex system was tested for detection sensitivity, DNA mixtures, inhibitor tolerance and species specificity; SWGDAM Validation Guidelines - Approved December 2012 were followed for the human fluorescent STR multiplex PCR reagent. Samples from 181 unrelated Zhejiang Han individuals (121 males and 60 females) were typed using this multiplex system. The results show that this 19X-STRs multiplex system is a robust and reliable amplification means to facilitate forensic and human identification testing.

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.

Tespa1 is associated with susceptibility but not severity of rheumatoid arthritis in the Zhejiang Han population in China.

Observational and experimental studies in animal models have shown that Tespa1 may be associated with B cell function and the onset of rheumatoid arthritis (RA). We hypothesized that Tespa1 may also play an important role in patients with RA. To test this hypothesis, we investigated the expression level, gene polymorphisms, and promoter methylation of the Tespa1 gene in 77 RA patients and 113 matched healthy controls. We found that the expression of Tespa1 is significantly lower in RA patients with both low and moderate-to-high disease activity. Moreover, patients with familial (first-degree siblings) but not sporadic RA have a statistically significant difference at the rs4758993 locus with healthy people. Furthermore, we found seven methylation sites on the Tespa1 promoter, but no evidence of the association between methylation at these sites and RA susceptibility. These data support a potential role for Tespa1 in the pathogenesis of RA.

Establishment of a polymerase chain reaction sequencing based typing method for HLA-DPB1 exons 2 and 3 and investigation of their polymorphisms

To establish a polymerase chain reaction sequencing-based typing (PCR SBT) method for HLA-DPB1 exons 2 and 3, and to analyze their polymorphisms. Based on the sequences of HLA-DPB1 loci, locus-specific primers were designed and applied to amplify the target sequences encompassing the entire exons 2 and 3 of HLA-DPB1. The amplification products were digested by enzymes and directly sequenced in both directions. The genotype was assigned by Assign 3.5+ SBT software. Specific target fragment was obtained with the PCR amplification, and good quality electropherogram was derived by direct sequencing. Among 242 individuals from Zhejiang Han population, 18 HLA-DPB1 alleles were detected. Alleles with a frequency of > 0.05 have included DPB1*05:01:01/135:01 (0.4112), DPB1*02:01:02 (0.1901), DPB1*04:01:01 (0.1136) and DPB1*02:02 (0.0620). A novel HLA-DPB1*168:01 allele has also been identified. Nine polymorphism sites were founded in the exon 3 region, which included a new SNP site 517 A>T. The PCR-SBT method for exons 2 and 3 of HLA-DPB1 is reliable, which allowed detection of polymorphisms in exon 3 of the HLA-DPB1 gene.

Genotyping of human neutrophil antigens by polymerase chain reaction sequence-based typing.

Genotyping for human neutrophil antigen (HNA) systems is required in the investigation of disorders involving alloimmunisation to HNA. We established a polymerase chain reaction sequence-based typing method for genotyping HNA and determined the genotype and allele frequencies of HNA in the Zhejiang Han population of China. Four hundred, healthy unrelated Zhejiang Han individuals were recruited. Specific primers for HNA were designed and the polymerase chain reaction amplification conditions were optimised. Amplification amplicons were purified with enzyme digestion and then sequenced. The frequencies of the FCGR3B*01 and FCGR3B*02 alleles were 0.613 and 0.387; no FCGR3B*03 allele was found. The frequencies of the SLC44A2*1 and SLC44A2*2 alleles were 0.654 and 0.346, respectively, while the frequencies of the ITGAL*1 (HNA-5a) and ITGAL*2 (HNA-5b) alleles were 0.896 and 0.104. Only ITGAM*1 (HNA-4a) allele was found in this study. Six single nucleotide polymorphisms were confirmed on sequenced regions separate from HNA polymorphisms, including FCGR3B (IVS3+39G>A and IVS3+52G>A), CD177(172A>G), SLC44A2 (IVS5-44A>G and IVS7-15T>C) and ITGAM (IVS3+118T>C). The polymerase chain reaction sequence-based typing method for genotyping HNA is reliable. These data of HNA alleles frequencies could contribute to the analysis of alloimmunisation to HNA in China.

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.

Relationship between polymorphisms and haplotypes of RET gene and Hirschsprung's disease.

Objective To study the relationship between polymorphisms of RET gene and the incidence of Hirschsprung's disease, investigate the haplotypes of RET gene in patients with Hirschsprung's disease, and analyze the characteristics of single nucleotide polymorphisms of RET gene in Zhejiang Han population. Methods Peripheral blood samples were collected from 123 patients with Hirschsprung's disease and 194 healthy children from 2005 to 2007 at Children's Hospital of Zhejiang University. G enomic DNA was extracted from the peripheral blood, and the genotypes were analyzed using polymerase chain reaction and direct sequencing. The frequencies of haplotypes were estimated using the PHASE software. The frequencies of RET alleles of the 194 healthy children were compared with those of other races. The correlation between RET gene and Hirschsprung's disease was analyzed using the chi-square test, and it was expressed in the form of odds ratio and 95% confidence interval.Results Increased risk of Hirschsprung's disease was observed in homozygous genotypes of the RET alleles -5AA, - 1CC, c135AA and c2307GG when compared with other genotypes ( x2 =57. 775, 20.469, 57. 040,38. 869, P ＜ 0. 05 ). Increased risk of Hirschsprung's disease was also observed in RET alleles -5A, - 1 C,c135A, c2307G when compared with other alleles ( x2 = 85.114, 53.117, 77. 005, 70. 161, P ＜0.05). There was no relationship between the frequencies of the alleles and the types of Hirschsprung's disease ( x2= 0.048,0.265, 0. 395, 0.027, P ＞ 0.05 ). The percentage of patients with haplotype ACAG was 75.2%, which was significantly higher than that of 38.7% in healthy children ( x2 = 62. 776, P ＜ 0.05 ). The frequencies of Hirschsprung's disease-associated alleles of RET - 5A, c135A and c2307G in Chinese were significantly higher than thosein the Caucasians or Yorubas (P＜0.05). Conclusions RET -5G＞A, -1A ＞C, c135G＞A and c2307T ＞ G are associated with Hirschsprung's disease and haplotype ACAG is the core one in Zhejiang Han population. There is no relationship between the frequency of allele and the types of Hirschsprung's disease. The frequencies of alleles of RET -5A, c135A and c2307G in Chinese are significantly higher than those in the Caucasians or Yorubas. Key words: Hirschsprung's disease; RET gene; Polymorphism; Haplotype

Analysis of the HLA-DPA1 and HLA-DPB1 polymorphism of Zhejiang Han population by PCR-sequence based typing

To investigate the polymorphisms of HLA-DPA1 and HLA-DPB1 loci of Han population in Zhejiang province of China. The alleles of HLA-DPA1 and HLA-DPB1 loci in 100 unrelated healthy individuals were analyzed using polymerase chain reaction-sequence based typing. Eight HLA-DPA1 alleles and 19 HLA-DPB1 alleles were found in the population. The HLA-DPA1 alleles with higher frequencies were DPA1*020202 (47.0%), DPA1*010301 (38.5%) and DPA1*020101(10.5%). The HLA-DPB1 alleles with higher frequencies were DPB1*0501, DPB1*020102 and DPB1*040101. The frequencies were 39.5%, 13.5% and 13.0%, respectively. A total of 44 estimated DPA1-DPB1 haplotypes were detected. The HLA-DPA1*020202-DPB1*0501(29.5%) was the most frequent haplotype. The polymorphism data of the HLA-DPA1 and -DPB1 were obtained in Han population in Zhejiang province of China. There was linkage disequilibrium between the two loci.

Relationship between genetic polymorphisms of glutathione S-transferase genes and susceptibility to ulcerative colitis in Zhejiang Han population

Relationship between genetic polymorphisms of glutathione S-transferase genes and susceptibility to ulcerative colitis in Zhejiang Han population