Objective Acquiring genetic information of Y-SNPs and Y-STRs genetic makers from samples with the surname of Kong, which is useful for exploring the correlation between surname and Y chromosome in forensic applications studies.Methods Two multiplex genotyping assays and SNaPshot assay were used to analyze 255 unrelated male blood samples who share the same surname Kong and 330 unrelated male blood samples obtained randomly. 17 Y-STRs were typed for the surname Kong population samples. The software Arlequin 3.5.1.2 and the program Network 4.6.1.1 were used for data statistical analysis.Results 13 haplogroups were observed. The highest haplogroup frequency in the two populations were O3a2c1a-M117 (21.57%, 14.85%). 196 haplotypes in Kong population deifned by 17 Y-STRs locus were obtained and the haplotype diversity was 0.9939. 14-12-25-28-19-15-12-19-12-11-12-22-12-11-14-10-19 is the typical haplotype. Median Joining algorithm and Mismatch Distribution were adopted to analyze the Y-STR haplotye under haplogroup O3-M122, and the result shows that there are two “central star” distribution. Conclusion Combined with Y-SNP and Y-STR analysis showed that the Kong population had experienced complicated exchanges and expansion or continued growth, which has more than one surname origin. Hence, its population genetic structure and historical differences have potential applications in forensic science.

Objective T o detect the genotype of A B O blood group by SN aPshot technology. Methods D N A w ere extracted from the peripheral blood sam ples w ith know n blood groups (obtained by serology) of 107 unrelated individuals in Y unnan. Six SN P loci of the 261th, 297th, 681th, 703th, 802th, and 803th nucleotide positions w ere detected by SN aPshot M ultiplex kit, and relevant genetics param eters w ere cal-culated. Results In 107 blood sam ples, the allele frequencies of types A , B , O A, and O G w ere 0.3551, 0.1682, 0.2300 and 0.2476, respectively, w hile that of types A G and cis A B w ere not detected. T he geno-typing results of A B O blood group w ere consistent w ith that of serologic testing. Conclusion SN aPshot technology can be adapted for genotyping of A B O blood group.

ObjectiveTo evaluate the role of Janus kinase 2/signal transducer and activator of transcription 3 (JAK2/STAT3) signaling pathway in attenuation of myocardial ischemia-reperfusion (I/R) injury by tetramethylpyrazine in rats.MethodsSixty-four healthy male Wistar rats weighing 250-300 g were randomly divided into 4 groups( n ＝ 16 each):sham operation group (group S),myocardial I/R group(group I/R),teramethylpyrazine group (group T) and AG,490( a JAK2 inhibitor) group (group AG).Myocardial I/R was induced by 30 min occlusion of left anterior desecending coronary artery (LAD) followed by 120 min reperfusion in groups I/R,T and A.In groups T and A teramethylpyrazine 20 mg/kg was injected iv 20 min before LAD occlusion.In group A AG490 3 tμg/g was injected iv at 5 min before reperfusion.Blood samples were then taken from inferior vena cava at 120 min of reperfusion for measurement of serum creatine phosphokinase (CK) and lactose dehydrogenase (LDH) activities.Myocardial infarct size was then measured and myocardial tissue was obtained for microscopic examination.ResultsSerum CK and LDH activities were significantly higher in group I/R than in group S.Pretreatment with tetramethylpyrazine significantly decreased myocardial infarct size and I/R-induced increase in serum CK and LDH activities and histologic damage.The protective effect of tetramethylpyrazine against myocardial 1/R injury was attenuated by postconditioning with AG490.ConclusionJAK2/STAT3 signaling pathway is involved in attenuation of myocardial I/R injury by tetramethyl pyrazine in rats.

Objective A new methodology was established to efficiently obtain the genotype of DNA remained on standard long gun. Methods Direct PCR and silicon membrane method were combined to detect DNA polymorphism of a total of 240 samples at 5 different positions from 48 standard long guns. Results Combining direct PCR and silicon membrane method, we obtained full DNA profiles in 42 out of 48 standard long guns, with a detection rate up to 87.50%. Conclusion The results demonstrate that the combination of direct PCR and silicon membrane method provide a quick and accurate way to detect DNA polymorphism on the standard long gun.

OBJECTIVETo explore the association between HLA-DQA1 gene copy number polymorphisms and gastric cancer risk in Chinese population, and the interaction of those genes and environmental factors.

METHODSThe genotype of HLA-DQA1 gene copy number polymorphisms was determined in 343 patients with gastric cancer and 330 controls by quantitative polymerase chain reaction. Logistic regression model was used to evaluate the impact of this polymorphism on the risk of developing gastric cancer and the gene-environment interaction.

RESULTSCompared with 0 copy of HLA-DQA1 gene carriers, the 2 copies of HLA-DQA1 gene carriers had a significantly increased risk of gastric cancer (OR = 1.87, 95%CI = 1.15 - 3.06, P = 0.012). Gene-environment interaction of HLA-DQA1 gene copy number polymorphisms and Helicobacter pylori infection significantly increased the risk of gastric cancer in a multiplicative manner, with an OR of 3.89 (95%CI = 1.75 - 8.57, P = 0.001).

CONCLUSIONSHLA-DQA1 gene copy number polymorphism is associated with gastric cancer susceptibility, and there is a multiplicative gene-environment interaction between this polymorphism and Hp infection in the development of gastric cancer.

Adult ; Aged ; DNA Copy Number Variations ; Female ; Gene-Environment Interaction ; Genetic Predisposition to Disease ; Genotype ; HLA-DQ alpha-Chains ; genetics ; Helicobacter Infections ; Humans ; Male ; Middle Aged ; Risk Factors ; Stomach Neoplasms ; genetics ; immunology ; microbiology

The prognosis of T-cell lymphoma (TCL) has been shown to be associated with the clinical characteristics of patients. However, there is little knowledge of whether genetic variations also affect the prognosis of TCL. This study investigated the associations between single nucleotide polymorphisms(SNPs) in tumor necrosis factor receptor superfamily(TNFRSF) genes and the survival of patients with TCL. A total of 38 tag SNPs in 18 TNFRSF genes were genotyped using Sequenom platform in 150 patients with TCL. Kaplan-Meier survival estimates were plotted and significance was assessed using log-rank tests. Cox proportional hazard models were used to analyze each of these 38 SNPs with adjustment for covariates that might influence patient survival, including sex and international prognostic Index score. Hazard ratios (HRs) and their 95% confidence intervals(CIs) were calculated. Among the 38 SNPs tested, 3 were significantly associated with the survival of patients with TCL. These SNPs were located at LTβR (rs3759333C>T) and TNFRSF17(rs2017662C>T and rs2071336C>T). The 5-year survival rates were significantly different among patients carrying different genotypes and the HRs for death between the different genotypes ranged from 0.45 to 2.46. These findings suggest that the SNPs in TNFRSF genes might be important determinants for the survival of TCL patients.
Female ; Genetic Variation ; Genotype ; Humans ; Kaplan-Meier Estimate ; Lymphoma, T-Cell ; genetics ; mortality ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Proportional Hazards Models ; Receptors, Tumor Necrosis Factor ; classification ; genetics ; Survival Rate

Objective To investigate the association of the DYS527a/b and DYF387S1a/b multi-allele pattern with Y-SNP haplogroups.Methods Samples from 295 unrelated males who carrying the DYS527a/b multi-allele pattern were amplified by the YFilerPlus? kit.The genotypes of their frequency distributions,including three multi-copy loci(DYS527a/b,DYF387S1a/b,DYS385a/b)and other single-copy loci were obtained.The DYS527a/b multi-allele pattern and their haplotypes were examined for the associations with Y-chromosome haplogroups using the AIYSNP42 kit,which contains 42 Y-SNP loci.Based on the above results,the association between the DYS527a/b multi-allele patter and its constituent Y-STR haplotypes and related haplogroups was discussed.Results Among the 295 samples,the DYS527a/b tri-allele pattern and tetra-allele pattern accounted for 97.29%and 2.71%respectively,while the DYF387S1a/b tri-allele pattern and tetra-allele encompassed 54.24%and 4.75%.Null allele was detected in DYS448 in 13.22%of the samples.Here,7 Y-SNPs were deticted such as O-M175 and C-M131 which encompassed 45.76%and 45.08%.The haplogroups of R1-M173,N-M231,D1-M174,J-M304 and F-M89 were less than 13 cases,with frequencies ranging from 4.41%～0.34%.There were Y-STR genotypes differences among haplogroups,as haplogroup O-M175 was represented by 4 genotypes of Y-STR profiles characterized by DYS385a/b(12/12,as well as 12/17,12/18,12/19),DYS392(13),DYS593(16)and DYS393(12),and haplogroup C-M130 was characterized by DYS527a/b(19/20/21),DYS385a/b(11),DYS593(17),DYS390(23),Y_GATA_H4(11),and DYS444(13)and so on.Conclusion The DYS527a/b multi-allele pattern is frequently observed in the Kunming population with haplogroup C-M130.In the samples from haplogroups O,C,R1 and N,the DYS527a/b and DYF387S1a/b haplotypes frequently exhibit the multi-allele pattern.Given the frequencies of different haplogroups and the association between Y-SNP haplogroups and Y-STR loci,it could be helpful to look for more details in the paternal lineage search.

Objective To investigate the association between microvariants at locus DYS570 and Y-SNPs haplogroup.Methods 89 Y-SNPs and 34 Y-STRs in AIYSNP42,AIYSNP47 and YfilerTM Platinum kits were used to detect the genotype of 116 microvariants at locus DYS570 in Kunming,and the Set-B kit was used to detect the core repeat sequences of the DYS570 locus.The data were statistically analyzed by direct counting method.Then,a network map was drawn by Network 10.2,in order to visualize the genetic information of the sample.Results The results demonstrated that 111 DYS570/18.3-21.3 samples had a core repeat sequence of TTT[TITC]18-21,belonging to subgroup O2a2b1a1a1a4-F14494.A DYS570/20.3 sample had a core repeat sequence of[TTTC]15TTC[TTTC]5,belonging to O2a1b1a1a1a1e-F1365 subgroup.A DYS570/17.1 sample had a core repeat sequence of[TTTC]17 T,belonging to the O2a1b1a1a1a-F11 subgroup.Three DYS570(19.2)samples had[TTTC]3 TT[TTTC]16,belonging to the D1a1a-M15 haplogroup.Conclusion The results indicated that the microvariant with the same core repeat structure at locus DYS570 was associated with haplogroups,and the ancestry origin of samples can be inferenced from microvariant characteristics during the practice of forensic medicine.

Objective Based on the techniques of continual tissue slices, the human epididymis was rebuilt for understanding the anatomical and histological features of the epididymal ducts. Methods Continuous tissue slices of one human epididymis were performed and digital slice images were obtained through scanning with Leica-Aperio AT2; the pipe wall of epididymal duct was aligned in sequence with Photoshop CC 2018 software and VGStudio MAX V3.0 software was used for three-dimensional synthesis. Finally, the later modification was carried out with Materialise Magics V22.0 software. Another human epididymis was used for electron microscopy. The histological features of epididymal ducts were analysed by combining slices and three-dimensional reconstruction. Results A total of 4331 and 543 slices in transverse and sagittal section respectively were prepared with a thickness of 7 |ira. According to the three-dimensional structure, regional distribution of human epididymal duct could be found obviously and the caput, corpus and cauda of epididymis could be clearly divided into 7, 9 and 4 subregions respectively. There were tissue intervals among adjacent subregions and epididymal ducts were disordered within each subregion, but differences were existed in tubular diameter and epithelial structure, and adjacent subregions were connected by single epididymal duct in the corpus and cauda. Conclusion The human epididymal duct can be successfully reconstructed by continual tissue slices technique. The human epididymal duct has regional distribution in space obviously and there are differences between different subregions.

OBJECTIVES: To detect the genotype of ABO blood group by SNaPshot technology. METHODS: DNA were extracted from the peripheral blood samples with known blood groups （obtained by serology） of 107 unrelated individuals in Yunnan. Six SNP loci of the 261th, 297th, 681th, 703th, 802th, and 803th nucleotide positions were detected by SNaPshot Multiplex kit, and relevant genetics parameters were calculated. RESULTS: In 107 blood samples, the allele frequencies of types A, B, O^A, and O^G were 0.355 1, 0.168 2, 0.230 0 and 0.247 6, respectively, while that of types A^G and cis AB were not detected. The genotyping results of ABO blood group were consistent with that of serologic testing. CONCLUSIONS SNaPshot technology can be adapted for genotyping of ABO blood group.
ABO Blood-Group System/genetics* ; Alleles ; Asian People/genetics* ; China ; DNA ; Ethnicity ; Gene Frequency ; Genotype ; Humans ; Polymerase Chain Reaction/methods* ; Polymorphism, Restriction Fragment Length