Analysis of the 19 Y-STR and 16 X-STR loci system in the Han population of Shandong province, China.

The sex-linked short tandem repeats (STR), Y-STR and X-STR, are important for autosomal STRs in forensic paternity testing. We evaluated the forensic parameters of 19 Y-STRs and 16 X-STRs in the Han population of Shandong province, China. A Goldeneye 20Y kit (DYS391, DYS389I, DYS390, DYS389II, DYS348, DYS456, Y-GATA-H4, DYS447, DYS19, DYS392, DYS393, DYS388, DYS439, DYS635, DYS448, DYS460, DYS458, DYS437, DYS385 a/b) was used to analyze the forensic parameters of 534 unrelated males. A Goldeneye17X system (DXS6795, DXS9902, DXS8378, HPRTB, GATA165B12, DXS7132, DXS7424, DXS6807, DXS6803, GATA172D05, DXS6800, DXS10134, GATA31E08, DXS10159, DXS6789, DXS6810, amelogenin) was used to analyze 97 unrelated males and 214 females. In addition, we used the kits to examine 5 cases with abnormal amelogenin test results, as well as a male child with agenosomia typed by autosomal STR. We found 203 Y-STR haplotypes with allele frequencies ranging from 0.0019 to 0.7959, and GD ranging from 0.3429 to 0.9667. Expect in DXS6803, the allele frequencies of the other 15 X-STR loci showed no differences between females and males. PDF ranged from 0.5504 to 0.9638, while PDM ranged from 0.3176 to 0.8377. With the exception of DXS6803 and DXS6810, the allele frequencies of other X-STR loci were in accordance with Hardy-Weinberg equilibrium in females. One amelogenin negative case was characterized as a deletion of Y-DYS458. This paper provided data regarding the genetic polymorphism of Y-STRs and X-STRs in the Han population, and demonstrated the importance of Y-STR and X-STR in forensic autosomal STR analysis.

Association of interleukin-1ß -511C/T promoter polymorphism with COPD risk: a meta-analysis.

Studies examining the role of interleukin (IL)-1ß -511C/T promoter polymorphism in the pathogenesis of chronic obstructive pulmonary disease (COPD) have shown inconsistent results. This meta-analysis was performed to assess the association between the IL-1ß-511C/T promoter polymorphism and COPD susceptibility. Published case-control, cross-sectional, and cohort studies from Pubmed, Embase, and China National Knowledge Infrastructure databases were retrieved. Data were extracted and pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated. Twelve studies with 1692 cases and 2009 controls were included in this meta-analysis. Pooled effect size showed an overall but not significantly decreased risk of IL-1ß-511 C/T with COPD susceptibility (OR = 0.89, 95%CI = 0.78-1.01) in a complete overdominant genetic model (TT+CC vs CT), indicating that homozygous individuals (CC and TT) have a decreased risk for COPD compared with heterozygotes (CT). In subgroup analysis by ethnicity, IL-1ß-511C/T was significantly correlated with a decreased risk of COPD in Asians (OR = 0.73, 95%CI = 0.60-0.88, P = 0.001), but not in Caucasians (OR = 1.02, 95%CI = 0.83- 1.24, P = 0.46), confirming a protective role of IL-1ß-511C/T in COPD in Asians. Moreover, after excluding studies that included populations not in Hardy-Weinberg equilibrium, the pooled results were robust and no publication bias was observed. This meta-analysis suggests that the IL-1ß-511C/T promoter polymorphism deceases the risk of COPD in Asians.

Long-term survival of non-small-cell lung cancer patients with EGFR inhibitor treatment.

The epidermal growth factor receptor (EGFR) inhibitors gefitinib and erlotinib are effective in the treatment of advanced non-small-cell lung cancer (NSCLC), but the median survival of patients is short. Here, we describe 2 patients with NSCLC receiving conventional chemotherapy and alternative treatment with gefitinib or erlotinib as second-line therapy. The first patient was alive at 8 years with alternative conventional chemotherapy and gefitinib, and the second patient was alive at long-term follow-up with conventional chemotherapy and gefitinib or erlotinib. Gefitinib, erlotinib, and conventional chemotherapy can be combined for satisfactory therapy for NSCLC.

Inhibitory effect of liposomal quercetin on acute hepatitis and hepatic fibrosis induced by concanavalin A.

Immune response plays an important role in the development of hepatic fibrosis. In the present study, we investigated the effects of quercetin on hepatitis and hepatic fibrosis induced by immunological mechanism. In the acute hepatitis model, quercetin (2.5 mg/kg) was injected iv into mice 30 min after concanavalin A (Con A) challenge. Mice were sacrificed 4 or 24 h after Con A injection, and aminotransferase tests and histopathological sections were performed. Treatment with quercetin significantly decreased the levels of alanine aminotransferase (ALT) and aspartate aminotransferase (AST). Consistent with this observation, treatment with quercetin markedly attenuated the pathologic changes in the liver. A hepatic fibrosis model was also generated in mice by Con A challenge once a week for 6 consecutive weeks. Mice in the experimental group were treated with daily iv injections of quercetin (0.5 mg/kg). Histopathological analyses revealed that treatment with quercetin markedly decreased collagen deposition, pseudolobuli development, and hepatic stellate cells activation. We also examined the effects of quercetin on the nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB) and transforming growth factor beta (TGF-ß) pathways by immunohistochemistry and real-time reverse transcriptase-polymerase chain reaction (RT-PCR). NF-κB and TGF-ß production was decreased after treatment with quercetin, indicating that the antifibrotic effect of quercetin is associated with its ability to modulate NF-κB and TGF-ß production. These results suggest that quercetin may be an effective therapeutic strategy in the treatment of patients with liver damage and fibrosis.

Inhibitory effect of liposomal quercetin on acute hepatitis and hepatic fibrosis induced by concanavalin A

Immune response plays an important role in the development of hepatic fibrosis. In the present study, we investigated the effects of quercetin on hepatitis and hepatic fibrosis induced by immunological mechanism. In the acute hepatitis model, quercetin (2.5 mg/kg) was injected iv into mice 30 min after concanavalin A (Con A) challenge. Mice were sacrificed 4 or 24 h after Con A injection, and aminotransferase tests and histopathological sections were performed. Treatment with quercetin significantly decreased the levels of alanine aminotransferase (ALT) and aspartate aminotransferase (AST). Consistent with this observation, treatment with quercetin markedly attenuated the pathologic changes in the liver. A hepatic fibrosis model was also generated in mice by Con A challenge once a week for 6 consecutive weeks. Mice in the experimental group were treated with daily iv injections of quercetin (0.5 mg/kg). Histopathological analyses revealed that treatment with quercetin markedly decreased collagen deposition, pseudolobuli development, and hepatic stellate cells activation. We also examined the effects of quercetin on the nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB) and transforming growth factor beta (TGF-β) pathways by immunohistochemistry and real-time reverse transcriptase-polymerase chain reaction (RT-PCR). NF-κB and TGF-β production was decreased after treatment with quercetin, indicating that the antifibrotic effect of quercetin is associated with its ability to modulate NF-κB and TGF-β production. These results suggest that quercetin may be an effective therapeutic strategy in the treatment of patients with liver damage and fibrosis.

Risk analysis of duo parentage testing with limited STR loci.

The aim of this study was to evaluate whether the Goldeneye 20A system (containing 19 short tandem repeats) can avert the shortage of duo parentage tests. Among routine cases typed by the Identifiler system, we identified 42 motherless cases, 2 fatherless cases, and 34 trio cases containing 1 locus mismatch and 4 motherless cases with 2 locus mismatches. One true trio case was rejected by fatherhood testing because of the omission of the mother's genotype and because the genotype of the putative father matched that of the child. All of the cases were retyped by the Goldeneye 20A system with the mother's or father's sample. In total, 39 motherless cases were verified by one mutation, 3 motherless cases were rejected for paternity, and 4 motherless cases with 2 locus mismatches were ruled out by fatherhood testing. After adding the father's genotype, 1 motherless case was confirmed by a single-locus mutation, whereas another case was rejected by motherhood testing. The mutation and exclusion rates detected with the Goldeneye 20A system accorded with the corresponding rates identified in the Identifiler system. The trio case also rejected fatherhood without the mother's genotype, and we found only 2 locus mismatches. Neither the Identifiler system nor the Goldeneye 20A system compensates for the absence of genetic information from the mother or father.

Artificial neural network models for predicting 1-year mortality in elderly patients with intertrochanteric fractures in China.

The mortality rate of older patients with intertrochanteric fractures has been increasing with the aging of populations in China. The purpose of this study was: 1) to develop an artificial neural network (ANN) using clinical information to predict the 1-year mortality of elderly patients with intertrochanteric fractures, and 2) to compare the ANN's predictive ability with that of logistic regression models. The ANN model was tested against actual outcomes of an intertrochanteric femoral fracture database in China. The ANN model was generated with eight clinical inputs and a single output. ANN's performance was compared with a logistic regression model created with the same inputs in terms of accuracy, sensitivity, specificity, and discriminability. The study population was composed of 2150 patients (679 males and 1471 females): 1432 in the training group and 718 new patients in the testing group. The ANN model that had eight neurons in the hidden layer had the highest accuracies among the four ANN models: 92.46 and 85.79% in both training and testing datasets, respectively. The areas under the receiver operating characteristic curves of the automatically selected ANN model for both datasets were 0.901 (95%CI=0.814-0.988) and 0.869 (95%CI=0.748-0.990), higher than the 0.745 (95%CI=0.612-0.879) and 0.728 (95%CI=0.595-0.862) of the logistic regression model. The ANN model can be used for predicting 1-year mortality in elderly patients with intertrochanteric fractures. It outperformed a logistic regression on multiple performance measures when given the same variables.

Artificial neural network models for predicting 1-year mortality in elderly patients with intertrochanteric fractures in China

The mortality rate of older patients with intertrochanteric fractures has been increasing with the aging of populations in China. The purpose of this study was: 1) to develop an artificial neural network (ANN) using clinical information to predict the 1-year mortality of elderly patients with intertrochanteric fractures, and 2) to compare the ANN's predictive ability with that of logistic regression models. The ANN model was tested against actual outcomes of an intertrochanteric femoral fracture database in China. The ANN model was generated with eight clinical inputs and a single output. ANN's performance was compared with a logistic regression model created with the same inputs in terms of accuracy, sensitivity, specificity, and discriminability. The study population was composed of 2150 patients (679 males and 1471 females): 1432 in the training group and 718 new patients in the testing group. The ANN model that had eight neurons in the hidden layer had the highest accuracies among the four ANN models: 92.46 and 85.79% in both training and testing datasets, respectively. The areas under the receiver operating characteristic curves of the automatically selected ANN model for both datasets were 0.901 (95%CI=0.814-0.988) and 0.869 (95%CI=0.748-0.990), higher than the 0.745 (95%CI=0.612-0.879) and 0.728 (95%CI=0.595-0.862) of the logistic regression model. The ANN model can be used for predicting 1-year mortality in elderly patients with intertrochanteric fractures. It outperformed a logistic regression on multiple performance measures when given the same variables.

Identification of sequence-related amplified polymorphism markers linked to the red leaf trait in ornamental kale (Brassica oleracea L. var. acephala).

Artistic diversiform leaf color is an important agronomic trait that affects the market value of ornamental kale. In the present study, genetic analysis showed that a single-dominant gene, Re (red leaf), determines the red leaf trait in ornamental kale. An F2 population consisting of 500 individuals from the cross of a red leaf double-haploid line 'D05' with a white leaf double-haploid line 'D10' was analyzed for the red leaf trait. By combining bulked segregant analysis and sequence-related amplified polymorphism technology, we identified 3 markers linked to the Re/re locus. A genetic map of the Re locus was constructed using these sequence-related amplified polymorphism markers. Two of the markers, Me8Em4 and Me8Em17, were located on one side of Re/re at distances of 2.2 and 6.4 cM, whereas the other marker, Me9Em11, was located on the other side of Re/re at a distance of 3.7 cM. These markers could be helpful for the subsequent cloning of the red trait gene and marker-assisted selection in ornamental kale breeding programs.

No association of polymorphisms in the suppressor of cytokine signaling (SOCS)-3 with rheumatoid arthritis in the Chinese Han population.

Suppressor of cytokine signaling (SOCS)-3 is a key negative regulator of cytokine signaling that inhibits the JAK/STAT signal transduction pathway; there are reports describing its role in attenuating arthritis through SOCS-3 overexpression. We examined the relationship between polymorphisms in the coding sequence and promoter region of SOCS-3 and rheumatoid arthritis (RA) in a Chinese Han population. Two single-nucleotide polymorphisms in the SOCS-3 5' region: -1044 C>A within the promoter region and rs12953258 (-920 C>A) in the 5'UTR (exon 2) of SOCS-3 were studied by restriction fragment length polymorphism analysis and tetra-ARMS-PCR in 100 RA patients and 100 healthy adults. The prevalence of the homozygous genotype -1044 CC was 100% in both RA and control groups. The heterozygous genotype (-920 C>A) was present in 89% of RA and in 82% of the control group, which is significantly different from the distribution in Western people. There was no transmission disequilibrium between these two SNPs (r(2) = 0.000). We did not detect significant differences in allele or genotype frequencies for either of these SNPs between the RA group and controls (P > 0.05). There was no association between rheumatoid factor and SOCS-3 SNP rs12953258 (P = 0.258). We conclude that SOCS-3 polymorphism is not a genetic risk factor for RA in Chinese patients.