OBJECTIVETo identify a novel human leukocyte antigen (HLA) allele in Chinese and investigate its inheritance in the family.

METHODSExceptional reaction pattern was detected in HLA-B locus in HLA typing using Luminex DNA polymerase chain reaction with sequence specific oligonucleotide probe hybridization (PCR-SSOP) assay. A confirmatory test for the novel HLA allele was performed by DNA sequencing based typing of the proband's family.

RESULTSThe DNA sequence was confirmed to be a novel HLA B allele. There were 7 nucleotides which differed from the closest matching HLA B*40:06:01 at positions 302(G to A), 309(G to C), 311(A to C), 313(C to G), 314(T to C), 317(G to T), and 319(G to C) in exon 2, which resulted in 5 amino acid changes at codon 101 (Ser to Asn), 104 (Asn to Thr), 105 (Leu to Ala), 106 (Arg to Leu), and 107 (Gly to Arg), respectively. Family investigation indicated that the novel allele was transmitted from the proband's father.

CONCLUSIONA novel HLA B allele was identified and officially named as HLA-B*40:96 (GenBank accession No. FJ374890) by the WHO Nomenclature Committee for Factors of the HLA System.

Alleles ; Base Sequence ; Female ; HLA-B Antigens ; genetics ; Haplotypes ; Histocompatibility Testing ; Humans ; Molecular Sequence Data ; Pedigree ; Sequence Alignment

This study was aimed to analyze the polymorphism of HLA-A, B, DRB1 alleles at high-resolution level in Han population from southern area of Shandong province in China. 688 randomly selected, unrelated and healthy individual from southern area of Shandong province were genotyped for HLA-A, -B and HLA-DRB1 loci by PCR-SBT. Then, allelic and haplotypic distributions of HLA-A, B and DRB1 were estimated by maximum likelihood estimation method using Arlequin 3.0. The results indicated that a total of 31 HLA-A, 63 HLA-B and 39 HLA-DRB1 alleles were identified in Han Population from southern area of Shandong province. Six HLA-A alleles were found with a frequency greater than 0.05 (A*24:02, *30:01, *11:01, *02:01, *33:03 and *02:06), with a cumulative frequency of 0.7223. For HLA-B locus, there were also six alleles which had a frequency higher than 5% (B*1302, *4403, *5101, B*4601, *1501 and *5801), representing 0.4432 of the all alleles in the population. And four HLA-DRB1 alleles were defined as predominant (DRB1*0701, *1501, *0901and *0803), accounting for 0.5453 of the defined alleles. The most common three-loci haplotype was A*30:01-B*13:02-DRB1*07:01 (0.1151) and the most frequent two-loci haplotype were A*30:01-B*13:02 (0.1303), A*30:01-DRB1*07:01 (0.1157) and B*13:02-DRB1*07:01 (0.1307). It is concluded that the allelic and haplotypic diversities of HLA-A, -B and HLA-DRB1 at high-resolution in Han population from southern area of Shandong province in China provide useful information for HLA matching in transplantation and diseases-associated study in this population.
Alleles ; Asian Continental Ancestry Group ; genetics ; China ; Female ; Gene Frequency ; Genetics, Population ; HLA-A Antigens ; genetics ; HLA-B Antigens ; genetics ; HLA-DRB1 Chains ; genetics ; Haplotypes ; Humans ; Male ; Polymorphism, Genetic

Objective To analyze the epidemiological characteristics of food poisoning deaths in Wenshan Prefecture of Yunnan Province from 2010 to 2019, so as to provide the basis for formulating the strategies and measures for prevention and control of food poisoning deaths in Wenshan Prefecture. Methods The data of food poisoning deaths in Wenshan Prefecture from 2010 to 2019 were collected and analyzed by Excel software. Results From 2010 to 2019, 65 food poisoning deaths were reported, accounting for 7.5% of the food poisoning incidents in the same period.The fatality rate of food poisoning deaths was 36.7%, and the mortality rate of food poisoning events in the same period was 2.1%.The high incidence of food poisoning deaths occurred in summer and autumn, with the highest in June and July.Wild mushroom poisoning was the main cause of death in food poisoning, and the incidence was mainly in rural families. Conclusion Wild mushroom poisoning should be the focus of controlling food poisoning deaths in Wenshan Prefecture.It is necessary to strengthen public education, improve people′s ability to identify edible wild mushrooms, strengthen the building of capacity of medical institutions in towns and villages, and establish a long-term mechanism for food safety management.

OBJECTIVETo identify a novel HLA DRB1 allele in a Chinese leukemia family.

METHODSA new HLA-DRB1 allele was initially detected by polymerase chain reaction-sequence specific primer and unusual reaction pattern by Luminex RSSO, then DNA sequencing was performed to identify the sequence of the novel allele.

RESULTSThe DNA sequencing revealed the presence of the new allele which differs from the closest matching HLA-DRB1*120201 by a single nucleotide substitution at position (341 C > T in exon 2), resulting in an amino acid change from Ala to Val at coden 85.

CONCLUSIONA novel allele was confirmed by DNA sequencing and has been designated HLA-DRB1*1219 by the WHO Nomenclature Committee.

Alleles ; Amino Acid Sequence ; Base Sequence ; HLA-DR Antigens ; genetics ; HLA-DRB1 Chains ; Humans ; Molecular Sequence Data ; Mutation ; Sequence Analysis, DNA

OBJECTIVETo ascertain whether the carrier rate is high in Quanzhou which is next to Taiwan in South of the Yangtze River.

METHODSPopulation analysis of three SLC25A13 mutations, i.e. 851del4, 1638-1660 dup, and IVS6+ 5G to A was carried out in 450 healthy individuals. DNA diagnostic method of 851del4 was improved by using PCR-restriction fragment length polymorphism( PCR-RFLP) with restriction enzyme HpyCH4 IV, and the results were confirmed by GeneScan method.

RESULTSSix carriers with 851del4, 3 with 1638-1660 dup and 3 with IVS6+ 5G to A was found.

CONCLUSIONThe high carrier rate (0.027, 12/450) obtained from testing of only three mutations indicated that there must be a certain number of patients with citrin deficiency in Quanzhou, even in Fujian. Therefore, it is important for physicians in Quanzhou, Fujian province to learn about citrin deficiency, and to diagnose and treat the patients correctly.

Asian Continental Ancestry Group ; genetics ; Base Sequence ; Calcium-Binding Proteins ; deficiency ; China ; DNA Mutational Analysis ; methods ; Female ; Humans ; Male ; Mitochondrial Membrane Transport Proteins ; genetics ; Organic Anion Transporters ; deficiency ; Polymorphism, Single Nucleotide ; genetics ; Sequence Deletion ; genetics

This study was purposed to analyze and identify a novel HLA allele in Chinese population. A new HLA-B allele which is closely related to HLA-B*35:03:01 was initially detected by PCR-SSOP, then DNA sequencing was performed to identify the difference between the novel allele and HLA-B*35:03:01 allele. The result showed that the sequence of the new allele was different from all other known sequence. It differs from the closest matching HLA-B*35:03:01 by a single substitution at position 387 C→G in exon 3, no resulting in amino acid change. It is concluded that this allele is a novel one and has been officially named B*35:03:07 by the WHO Nomenclature Committee.
Alleles ; Asian Continental Ancestry Group ; genetics ; HLA-B Antigens ; genetics ; Humans ; Male ; Sequence Analysis, DNA

OBJECTIVETo investigate allelic and haplotypic polymorphisms of human leukocyte antigen(HLA) genes at A, B and DRB1 loci in Yantai and Weihai Han population and analyze the genetic relationship between Yantai, Weihai Han population and other populations.

METHODSA total of 4062 unrelated Han ethnic individual from Yantai and Weihai regions were genotyped by polymerase chain reaction-sequence specific olignucleotide probe(PCR-SSOP) for HLA-A, B and DRB1 loci. Allelic and haplotypic frequencies were estimated by maximum likelihood estimation method using Arlequin 3.5 software. Genetic distances were computed, and phylogenetic tree was constructed using Mega5.0 software.

RESULTSRespectively 18, 33 and 13 alleles were observed at HLA-A, B and DRB1 loci. The most frequent alleles were HLA-A*02(0.2935), HLA-B*15(0.1485) and HLA-DRB1*15(0.1621). And the most common three loci haplotype was A*30-B*13-DRB1*07(0.0649). A*33-B*58, A*66-DRB1*13 and B*08-DRB1*03 showed the strongest linkage disequilibrium. Yantai and Weihai Han population has the shortest genetic distance with Jilin Han population (0.0034).

CONCLUSIONThe HLA-A, B and DRB1 loci are highly polymorphic in Han population from Yantai and Weihai, and this population has closest relationship with Han population from Jilin province.

Asian Continental Ancestry Group ; genetics ; Female ; Gene Frequency ; HLA-A Antigens ; genetics ; HLA-B Antigens ; genetics ; HLA-DRB1 Chains ; genetics ; Haplotypes ; Humans ; Linkage Disequilibrium ; Male ; Phylogeny ; Polymorphism, Genetic

OBJECTIVETo report our data of patients with clinical stage T(1-3)N(1-2)M(0) renal cell carcinoma (RCC) and explore the biological behavior of this malignancy.

METHODSA total of 531 patients with no distant metastatic RCC underwent open radical nephrectomy at our institution between 1988 and 2008, among whom 42 patients with histological nodal metastases had successful surgical tumor resection. The clinical data and outcomes of the 42 patients were analyzed.

RESULTSOf those 42 patients, 19.0% had T1, 21.4% had T2, and 59.5% had T3 stage tumors; 42.9% had N1 and 57.1% had N2 stage tumors. Tumor recurred in 30 (71.4%) patients after the surgery, and death occurred in 26 (61.9%) cases at the last follow-up; among the recurrent cases, 83.3% (25/30) had multiple metastases at the initial recurrence. The median cancer-specific survival (CSS) and disease-free survival (DFS) was 23 and 11 months in these cases, respectively. Multivariate analysis demonstrated that Fuhrman grade (P=0.005), N stage (P=0.014) and T stage (P=0.037) were the independent predictors of CSS; Eastern Cooperative Oncology Group (ECOG) performance status (PS) (P=0.002), tumor size (P=0.007), Fuhrman grade (P=0.009) and N stage (P=0.019) were the independent predictors of DFS.

CONCLUSIONPatients with T(1-3)N(1-2)M(0) RCC have poor prognosis. N stage is an independent predictor of both CSS and DFS, suggesting that extended lymph node dissection should be performed when suspicious enlarged nodal disease is found during surgery.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Carcinoma, Renal Cell ; diagnosis ; pathology ; Child ; Female ; Humans ; Kidney Neoplasms ; diagnosis ; pathology ; Lymph Node Excision ; Male ; Middle Aged ; Multivariate Analysis ; Neoplasm Staging ; Prognosis ; Young Adult

This study was purposed to investigate the effects of N-Arachidonoylethanolamine (ANA) on the quality of platelets (Plt) stored in Plt M-sol preservative solution at 22 ± 2°C. Samples taken from collecting apheresis Plt by the Amicus instrument and splited into two equal parts were stored in Plt M-sol preservative solution on a shaker at 22 ± 2°C. Different working concentrations of ANA (from 0.1 to 50 µmol/L) were then added into one part of stored Plt as the experimental group, the other without ANA was used as the control group. The viability of Plts stored at 22 ± 2°C for 7 days was evaluated by MTT colorimetric assay. The most effective concentration of ANA was selected and added to the subsequent experimental group. Plt count (BPC), mean Plt volume (MPV), Plt distribution width (PDW), phosphatidyl serine (PS) and soluble P-selectin were detected on the 1(st), 5(th), 7(th), 9(th) and 11(th) day of storage. The results showed that the most effective working concentration of ANA was 0.5 µmol/L, which showed significant increasing Plt viability (91.23 ± 5.44%) compared to the control group (62.54 ± 4.79%). Thus, ANA concentration at 0.5 µmol/L was choose to perform subsequent experiments. During 11 days of storage, the BPC, MPV and PDW were not changed significantly between the experimental group and control group, although there was decreasing trend in the BPC and increasing trends in MPV and PDW in the two groups. The rate of Plt PS positive was enhanced during the storage period: the rate of PS positive in experimental group increased from 7.69 ± 1.82% to 10.74 ± 1.78% while it in control group increased from 11.21 ± 2.03% to 15.37 ± 1.95%, with significant differences between the two groups (P < 0.05) on the 9(th) and 11(th) day of storage, respectively. Soluble P-selectin contents in experimental group on the 9(th) and 11(th) day of storage were 30.19 ± 2.03 ng/ml and 34.52 ± 2.64 ng/mL, respectively, while those in control group were 39.18 ± 2.66 ng/ml and 43.23 ± 2.58 ng/ml, respectively, with significant differences between the two groups (P < 0.05). It is concluded that the extended storage of Plt in M-sol treated with low concentration ANA can potentially alleviate Plt storage lesions.
Adult ; Blood Platelets ; drug effects ; Blood Preservation ; Endocannabinoids ; pharmacology ; Female ; Humans ; Male

OBJECTIVETo investigate the expression of E2F1 gene in patients with acute leukemia(AL) and its clinical significance.

METHODSSeventy-two AL patients treated in March 2015 -March 2016 in our hospital were selected, and 24 healthy people were selected as controls. RT-PCR and Western blot were applied to determine the level of E2F1 gene transcription and expression, and the statistical analysis was performed to reveal the clinical value of E2F1 gene.

RESULTSThe relative expression levels of E2F1 gene and protein in bone marrow of AL patients was higher than that in control group (P<0.05). The levels of WBC, β-MG and LDH in the patients with high expression of E2F1 gene were higher than those in patients with low expression of E2F1 gene(P<0.05), but the E2F1 gene expression did not correlate with sex, fever, fatigue, bone marrow blast ratio, peripheral blood blasts ratio (P>0.05). The complete remission (CR) of patients with low expression of E2F1 was significantly higher than that of patients with high expression of E2F1(P<0.05). And the drug resistance in the patients with low expression of E2F1 gene was lower than that of patients with high expression of E2F1 gene (P<0.05). The expression level of E2F1 gene decreased significantly in patients with symptomatic remission after treatment (P<0.05). The expression levels of E2F1 gene in M1, M2 and M5 patients decreased significantly after treatment (P<0.05). Kaplan-Meier survival analysis showed that OS and DFS in the patients with low expression of E2F1 gene were higher than those in patients with high expression (P<0.05). Multivariate Cox regression analysis showed that the age and E2F1 gene were the independent influencing factors of OS (P<0.05); the sex and E2F1 gene were the dependent factors of DFS (P<0.05).

CONCLUSIONThe expression level of E2F1 gene in patients with AL has been found to be higher, the higher level of E2F1 gene closely relates with AL patients, E2F1 gene can be used as a biological target for the clinical treatment of AL.

Acute Disease ; Blood Cell Count ; Bone Marrow ; E2F1 Transcription Factor ; Humans ; Leukemia ; Prognosis ; Remission Induction