Responses of crop productivity and reactive nitrogen losses to the application of animal manure to China's main crops: A meta-analysis.

The effective utilization of manure in cropland systems is essential to sustain yields and reduce reactive nitrogen (Nr) losses. However, there are still uncertainties regarding the substitution of mineral nitrogen (N) fertilizer with manure in terms of its effects on crop yield and Nr losses. We conducted a comprehensive meta-analysis of wheat, maize, and rice applications in China and discovered that substituting mineral N fertilizer with manure increased wheat and maize yields by 4.9 and 5.5 %, respectively, but decreased rice yield by 1.7 %. The increase of yield is larger at low N application and low mineral N substitution rates ((SR) ≤30 %) for silt soils, warm regions, and acidic soils. High SR (>70 %) decreased rice yield as well as the N use efficiency of wheat and maize. Substitution of mineral N fertilizer with manure resulted in lower NH3 volatilization for wheat (48.7 %), lower N2O and NH3 emissions, and N runoff for maize (12.8, 49.6, and 66.7 %, respectively), and lower total Nr losses for rice (11.3-26.5 %). The loss of Nr was significantly and negatively correlated with soil organic carbon content. The rate of N application, soil properties, and climate were critical factors influencing N2O and NH3 emissions and N leaching, whereas climate or soil properties were the dominant factors influencing response in N runoff. We concluded that in silt soils, warm regions, and neutral soils, a ≤ 50 % substitution of mineral N fertilizer with manure can sustain crop yields while mitigating Nr losses.

Integrating life cycle assessment and a farmer survey of management practices to study environmental impacts of peach production in Beijing, China.

While intensive peach production has expanded rapidly in recent years, few studies have explored the environmental impacts associated with specific regional systems or the optimal management strategies to minimize associated environmental risks. Here, data from a survey of 290 native farmers were used to conduct a life cycle assessment to quantify the acidification potential (AP), global warming potential (GWP), eutrophication potential (EP), and reactive nitrogen (Nr) losses in peach production in Pinggu District, Beijing. Total annual Nr losses, and GWP, AP, and EP values for peach production in Pinggu District were respectively 10.7 kg N t-1, 857 kg CO2-eq t-1, 12.9 kg SO2-eq t-1, and 4.1 kg PO4-eq t-1. The principal driving factors were fertilizer production, transportation, and application, which together accounted for 94%, 67%, 75%, and 94% of Nr losses, GWP, AP, and EP, respectively. In the high yield, high nitrogen-use efficiency (HH) group, relative values of Nr losses, GWP, AP, and EP were respectively 33%, 25%, 39%, and 32% lower than the overall averages for 290 orchards. Further analyses indicate that improved farming practices such as decreasing application rates of fertilizers, increasing proportion of base fertilization rate, and proper fertilization frequency in the HH group were the main reasons for these orchards' better performance in peach yields and partial factor productivity of nitrogen fertilizer, and their reduced environmental impacts. These results highlight the need to optimize nutrient management in peach production in order simultaneously to realize both environmental sustainability and high productivity in the peach production system.

Spatial changes and driving variables of topsoil organic carbon stocks in Chinese croplands under different fertilization strategies.

The effect of different fertilization strategies on changes in soil organic carbon (SOC) largely depends on the current status of a given agricultural region. We analysed the results of 90 long-term field trials (20-37 years) in Chinese croplands to determine the effects of fertilization strategies [i.e., no fertilizer (CK), chemical fertilizer (NPK), manure only (M) and manure plus chemical fertilizers (NPKM)] on soil organic carbon stock (SOCs) at 0-20 cm depth in the North (NC), Northeast (NEC), Northwest (NWC) and South (SC) China. Compared with initial values, SOCs increased by 24-68% and 24-74% under NPKM and M applications, respectively, over the experimental periods. Furthermore, final SOCs under NPKM in NEC and NWC were significantly higher than those under other treatments, but there was no significant difference between NPKM and M in SC and no significant differences among fertilizer treatments in NC. Average SOC stock change rates (SOCr) were positive under all treatments for all regions except for CK and NPK in NEC, which were negative. There were regional differences in treatment effects: all treatments showed significantly different rates in NC and NWC, whereas there were no significant differences between the M and NPKM in NEC and SC. Random forest (RF) modeling showed that among the selected variables initial SOCs was the most important in accounting for differences in SOCr, followed by soil bulk density, mean annual temperature and precipitation for all treatments. Soil total nitrogen content was also an important explanatory variable for SOCr for CK and NPK, and soil pH for M. This study has highlighted the main driving variables of SOC change which can be of use in optimizing fertilization strategies, by taking account of the baseline SOCs status and environmental factors for different regions, to minimize soil carbon emissions while maximizing carbon sequestration in soils.

A3G-induced mutations show a low prevalence and exhibit plus-strand regional distribution in hepatitis B virus DNA from patients with non-hepatocellular carcinoma (HCC) and HCC.

APOBEC3G (A3G) cytidine deaminase is an innate immune restriction factor that can edit and inhibit hepatitis B virus (HBV) replication. The preferred target of A3G is deamination of the third cytosine of 5'CCC to form a mutant marker 5'CC C → K. However, the distribution of A3G-induced mutations on HBV DNA during infection is not well characterized. To provide clarity, we obtained the HBV DNA sequences from HBV infected individuals with and without hepatocellular carcinoma (HCC and non-HCC, respectively), from the NCBI database, and calculated the r values of A3G-induced 5'CC C → K mutation prevalence in HBV DNA. A3G-induced mutations were weakly prevalent and mainly distributed in the plus strand of HBV DNA (r = 1.407). The mutations on the minus strand were weaker (r = .8189). There were A3G-induced mutation regions in the 1200 to 2000 nt region of the plus strand and the 1600 to 1500 nt region of the minus strand. There was no significant difference in the r values of A3G-induced mutations in HBV DNA between the HCC and non-HCC groups. However, the rvalue of the plus strand 2400 to 2800 nt regions of HCC derived HBV DNA (r = 4.2) was significantly higher than that of the same regions of non-HCC derived HBV DNA (r = 1.21). These findings clarify the weak prevalence and preferred plus-strand distribution of A3G-induced mutations on HBV DNA from HCC and non-HCC. These findings may provide valuable clues regarding the interaction mechanism between A3G and HBV DNA and inform HCC screening.

Preclinical safety evaluation of body protective compound-157, a potential drug for treating various wounds.

BPC157 displays protective activity in various organs and tissues. This report presents preclinical toxicity studies with BPC157 in mice, rats, rabbits and dogs. The single-dose toxicity study did not show any test-related effects that could be attributed to the test article. In repeated-dose toxicity evaluations, BPC157 was well tolerated in dogs, with no abnormal changes between the BPC157-treated groups and the solvent control group, with the exception of a decrease in creatinine level at a dose of 2 mg/kg but not at lower doses. The animals recovered spontaneously after 2 weeks of withdrawal. This may be due to the pharmacological activity of BPC157. A local tolerance test showed that the irritation caused by BPC157 was mild. BPC157 also showed no genetic or embryo-fetal toxicity. In summary, BPC157 was well tolerated and did not cause any serious toxicity in mice, rats, rabbits and dogs. These preclinical safety data contribute to the initiation of an ongoing clinical study. Based on the stability and protective effect of BPC157, which has been widely reported, BPC157 may have a better application prospect than the widely used cytokine drugs in wound therapy.

High­throughput and continuous flow isolation of rare circulating tumor cells and clusters in gastric cancer from human whole blood samples using electromagnetic vibration­based filtration.

Circulating tumor cells (CTCs) or CTC clusters are considered as suitable and relevant targets for liquid biopsy as they more accurately indicate cancer progression, the therapeutic effects of treatment and allows for monitoring of cancer metastasis in real­time. Among the various methods for isolating CTCs, size­based filtration is one of the most convenient methods. However, cell clogging makes the filtration process less efficient. In the present study, an electromagnetic vibration­based filtration (eVBF) device was developed that efficiently isolated rare CTCs and CTC clusters from clinical blood samples of patients with gastric cancer. Using human blood samples spiked with human gastric cancer cells, the parameters of this device such as vibrating amplitude and flow rate were optimized. Putative CTCs were detected using a conventional filtration method and the eVBF device from the peripheral blood samples of patients with gastric cancer. Continuous flow isolation of CTCs was evaluated by a simulated blood flow system. The eVBF device utilized the electromagnetic force to generate a periodic vibration that prevented the cell clogging and improved the filtering efficiency. The optimized eVBF device with the high­amplitude vibration exhibited a recovery efficiency of 80­90% from whole blood samples spiked with 100 or 1,000 gastric cancer cells per ml. Using the eVBF device, CTCs were detected in 100% of patients (10/10) with gastric cancer, and the positive detection rate of the eVBF device was 30% higher compared with the conventional filtration method. Furthermore, CTC clusters were detected in 40% (4/10) of CTC­positive patient samples, and the integrity of CTC clusters was preserved using the eVBF device. The eVBF device allowed for high­throughput (1 ml/min) and continuous flow isolation of CTCs without the addition of any antibodies, any chemical reagents or any pretreatment processes. Thus, the eVBF device provides an efficient tool for isolating rare CTCs and CTC clusters from patients with cancer, highlighting its potential for use in cancer diagnosis, treatment and cancer biology research.

Distribution and difference of APOBEC-induced mutations in the TpCpW context of HBV DNA between HCC and non-HCC.

Hepatitis B virus (HBV) DNA is vulnerable to editing by human apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like (APOBEC) cytidine deaminases. However, the distribution of APOBEC-induced mutations on HBV DNA is not well characterized. To this end, we obtained the HBV DNA sequence of HBV-infected individuals with and without hepatocellular carcinoma (HCC and non-HCC groups, respectively) from NCBI database and calculated the rapo values of APOBEC-induced TpCpW→TpKpW mutation prevalence in HBV DNA. The results showed that the APOBEC-induced mutations were mainly distributed in the minus strand of non-HCC-derived HBV DNA (rapo = 2.04), while the mutation on the plus-strand was weaker (rapo = 0.99). There were high APOBEC-induced mutation regions in the minus strand of HBV DNA 1 to 1000 nucleotides (nts) region and in the plus-strand of HBV DNA 1000 to 1500 nts region; the mutations in the 1 to 1000 nts region were mainly TpCpW→TpTpW mutation types (total T/G: 111/18) and a number of these were missense mutations (missense/synonymous: 35/94 in P gene, 17/15 in S gene, and 5/10 in X gene). The difference between minus to plus-strand rapo of HCC-derived HBV DNA (1.96) was greater than that of the non-HCC group (1.05). The minus-strand rapo of HCC-derived HBV DNA regions 1000 to1500nts and 1500 to 2000 nts (rapo = 4.2 and 4.2) was also higher than that of the same regions of non-HCC-derived HBV DNA (rapo = 1.2 and 1.1). Finally, the ratio of minus to plus-strand rapo was used to distinguish HCC-derived HBV DNA from non-HCC-derived HBV DNA. This study unraveled the distribution characteristics of APOBEC-induced mutations on double strands of HBV DNA from HCC and non-HCC samples. Our findings would help understand the mechanism of APOBECs on HBV DNA and may provide important insights for the screening of HCC.

Synthesis and evaluation of a prodrug of 5-aminosalicylic acid for the treatment of ulcerative colitis.

OBJECTIVES: This study is aimed to design and synthesize a prodrug of 5-aminosalicylic acid and evaluate its ameliorative effect on experimental ulcerative colitis (UC). MATERIALS AND METHODS: 5-Aminosalicylic acid-alanine (5-ASA-ALA) was synthesized and characterized. Its stability study was conducted in rat plasma and in the gastrointestinal tract environment, its transport characteristic was assessed using the Caco-2 cells. Its colon-targeting property was evaluated by the pharmacokinetic study, and incubation studies. A series of indicators were used to investigate its therapeutic effect on experimental colitis, including the survival rate and body weight of mice, the disease activity index (DAI), the colonic damage score and colon index, the myeloperoxidase (MPO) activity and the levels of malondialdehyde (MDA), total superoxide dismutase (SOD), glutathione (GSH) and glutathione peroxidase (GSH-Px) in colonic tissues. RESULTS: 5-ASA-ALA was barely absorbed in the Caco-2 monolayer or into the rat blood. It was remarkably stable when incubated in the upper gastrointestinal tract, while gradually hydrolyzed in the colon of rats. When orally administered to mice, 5-ASA-ALA had significantly greater therapeutic effect on colitis than the positive control. CONCLUSION: 5-ASA-ALA is demonstrated to be a promising oral colon-targeting prodrug of 5-ASA and has potential application in UC treatment.

A synthetic analysis of greenhouse gas emissions from manure amended agricultural soils in China.

Application of manure has been recommended as an effective strategy to to mitigate climate change. However, the magnitude of greenhouse gases emission derived by application of manure to agricultural soils across environmental conditions still remains unclear. Here, we synthesized data from 379 observations in China and quantified the responses of soil nitrous oxide (N2O), carbon dioxide (CO2) and methane (CH4) emissions to manure (Org-M) in comparison to chemical fertilizers (Min-F) or non-fertilizers (Non-F). The results showed that N2O, CO2 and CH4 emissions were significantly affected by Org-M compared to Min-F (percentage change: -3, +15 and +60%, P < 0.05) and Non-F (percentage change: +289, +84 and +83%, P < 0.05), respectively. However, at the same amount of total N input, Org-M decreased soil N2O emission by 13% and CH4 emission by 12%, and increased soil CO2 emission by 26% relative to Min-F in upland soils. For paddy soils, N2O, CO2 and CH4 emissions differed by -3%, -36% and +84% between Org-M and Min-F (i.e., Org-M minus Min-F). Thus, practices such as application of manure instead of chemical fertilizer and decreasing nitrogen input rate need to be highly considered and optimized under different soils and climate conditions to mitigate GHGs emission in China.

Hyaluronic acid and glucosamine sulfate for adult Kashin-Beck disease: a cluster-randomized, placebo-controlled study.

To evaluate the efficacy and safety of hyaluronic acid (HA) and glucosamine sulfate (GS) in alleviating symptoms and improving function of Kashin-Beck disease (KBD). A cluster-randomized, placebo-controlled trial was conducted in 150 patients with KBD. Participants were randomly allocated to receive intra-articular injection hyaluronic acid (IAHA) for 4 weeks, oral GS for 12 weeks, or oral placebo for 12 weeks. The primary outcome measures were 20 % and 50 % reductions in pain from baseline measured by the Western Ontario and McMaster Universities Osteoarthritis (WOMAC) index. Secondary outcome measures included WOMAC index parameters of pain, stiffness, and physical function. The third outcome measure was mean change in Lequence score. HA and GS were effective in reducing WOMAC pain by 20 % (differences of 43.5 % and 25.4 %) and 50 % (differences of 43.4 % and 26.9 %). Both HA and GS significantly reduced WOMAC pain, WOMAC stiffness, and WOMAC normalized score compared with placebo group (all P < 0.05). IAHA was significantly more effective than oral GS in improving WOMAC normalized score (P = 0.034), pain (P = 0.002), stiffness (P = 0.018), and function (P = 0.044). The results indicate that HA and GS were more effective than placebo in treating KBD and HA was more effective than GS.

The hepatitis B virus (HBV) core protein enhances the transcription activation of CRE via the CRE/CREB/CBP pathway.

We previously reported that hepatitis B virus core protein (HBc) can bind to the Enhancer I (Enh I) domain and can accumulate with transcription coactivator cAMP response element (CRE). This raises the possibility that HBc may interact with CRE/CREB and regulate CRE transcription activation. In this study, we investigated the function and mechanisms of HBc in regulating CRE transcriptional activation using the HepG2 cell line. Our results showed the following: (1) HBc expression significantly increases HBV CRE transcriptional activation; (2) phosphorylation of the serine residues in the arginine-rich domain (ARD) of HBc protein impacts the function of transcriptional activation by the CRE; (3) HBc protein significantly increases HBV CRE transcriptional activation following forskolin treatment; (4) HBc nonspecifically binds to CRE and enhances the binding of the cAMP response element-binding protein (CREB) to CRE; and (5) HBc increases the concurrent accumulation of CREB and CBP at the CRE region. HBc activates Enh I through its binding to CRE, increasing the concurrent accumulation of CREB/CBP on CRE, and thus increases CRE transcriptional activation.

An aptamer-based immunoassay in microchannels of a portable analyzer for detection of microcystin-leucine-arginine.

The rapid detection of microcystin-leucine-arginine (MC-LR), the most highly toxic among MCs, is significantly important to environmental and human health protection and prevention of MC-LR from being used as a bioweapon. Although aptamers offer higher affinity, specificity, and stability with MC-LR than antibodies in the immunodetection of MC-LR due to steric hindrance between two antibodies and limited epitopes of MC-LR for use in a sandwich immunoassay, no sandwich immunoassay using an aptmer has been developed for MC-LR detection. This study is aimed at developing an aptamer-antibody immunoassay (AAIA) to detect MC-LR using a portable analyzer. The aptamers were immobilized onto the glass surface of a microchamber to capture MC-LR. MC-LR and horseradish peroxidase (HRP)-labeled antibody were pulled into the microchamber to react with the immobilized aptamer. The chemiluminescence (CL) catalyzed by HRP was tested by a photodiode-based portable analyzer. MC-LR at 0.5-4.0 µg/L was detected quantitatively by the AAIA, with a CL signal sensitivity of 0.3 µg/L. The assay took less than 35 min for a single sample and demonstrated a high specificity, detecting only MC-LR, but not MC-LA, MC-YR, or nodularin-R. The recovery of two spiked real environmental samples calculated as 94.5-112.7%. Therefore, this AAIA was proved to be a rapid and simple method to detect MC-LR in the field by a single analyst.

[Transmission disequilibrium test for 15 short tandem repeat loci in Kashin-Beck disease and their interaction with low selenium].

OBJECTIVE: To identify the genetic susceptibility to Kashin-Beck disease (KBD) and explore the interaction between low selenium (Se) and the susceptibility gene loci in KBD. METHODS: The DNA samples collected from 23 KBD nuclear families were analyzed using PCR and GeneScan Analysis 3.7 and Genotyper3.7 software. The haplotype relative risk (HRR) and transmission disequilibrium test (TDT) were used to test the data of the genotypes. The serum selenium (Se) concentration was measured by atomic fluorescence spectrometry, and the interaction between low Se and the susceptibility loci was calculated using a binary logistic regression. RESULTS: In the 23 nuclear families, the alleles of D2S151 (248 bp), D2S305 (320 bp), and D11S4094 (194 bp) showed significant correlation to KBD (P<0.05). Serum Se concentrations in the studied individuals was 0.037 µg/ml. No significant statistical interaction was observed between low Se exposure and the susceptibility loci (P>0.05). CONCLUSION: The polymorphisms in the STR loci D2S305, D2S151, and D11S4094 or the polymorphism loci near them might been related to KBD susceptibility. Low Se exposure shows no significant interaction with the susceptibility loci.

[Association of genetic polymorphism of 14 STR loci on chromosome 2 with Kashin-Beck disease].

OBJECTIVE: To analyze the differences of genetic polymorphism of 14 STR loci on chromosome 2 between KBD patients and controls living in and outside of KBD catchment areas. METHODS: Blood samples anticoagulated with EDTA were collected from 135 unrelated individuals of Han population in Shaanxi Province, which included 45 samples from KBD patients, 45 from normal residents living in the KBD catchment areas, and 45 from normal residents outside of the KBD catchment areas. The DNA was extracted from the blood samples for PCR amplification of relevant fragments. The amplified products were analyzed using the ABI 3730 Genetic Analyzer. RESULTS: The allele numbers for 14 STR loci (D2S286, D2S165, D2S160, D2S2211, D2S367, D2S125, D2S206, D2S117, D2S142, D2S2333, D2S126, D2S325, D2S364, D2S337) in the KBD patients were 8, 11, 7, 7, 9, 10, 11, 11, 8, 10, 11, 10, 6 and 9, respectively. Different allele numbers for 14 STR loci were found in the normal residents in the KBD catchment areas (7, 10, 6, 7, 7, 8, 10, 10, 8, 8, 11, 8, 7 and 7) and those outside of the KBD catchment areas (8, 11, 7, 7, 10, 9, 11, 11, 7, 9, 11, 7, 8 and 7). There were significant differences in the allele frequencies in the D2S165 and D2S2333 locus between the KBD patients and the normal residents living in and outside of the KBD catchment areas (P > 0.05). Significant difference in the allele frequencies in the D2S160 loci was found between the KBD patients and the normal residents living in the KBD catchment areas (P = 0.046). Significant difference in the allele frequencies in the D2S364 loci was found among the three groups of participants (P = 0.046). CONCLUSION: The allele distribution patterns of the D2S165 and D2S2333 locus in KBD patients are different from normal people.

[Effects of selenium and/or iodine deficiency on chondrocyte apoptosis in rats].

OBJECTIVE: To explore the effects of selenium and/or iodine deficiency on chondrocyte apoptosis in articular cartilage in rats. METHODS: Forty-eight Sprague-Dawley rats were randomly divided into selenium deficiency group, iodine deficiency group, combined selenium and iodine deficiency group, and control group. Chondrocyte apoptosis was detected by terminal deoxynucleotidyl transferase biotin-dUTP nick end labeling (TUNEL) method, and Bcl-2 and Bax in articular cartilage were stained by immunohistochemistry in F3 generation of rats. RESULTS: In articular cartilage, the positive rate of apoptotic chondrocytes stained by TUNEL in the upper and middle zones in selenium deficiency group, iodine deficiency group, and combined selenium and iodine deficiency group (all P < 0.05) were significantly higher than that in control group. The apoptotic chondrocytes were prominent in the middle zone. The positive percentage of chondrocytes apoptosis was not significantly different among these three groups (P > 0.05). Compared with the control group, the expressions of both Bcl-2 and Bax were significantly higher in the upper and middle zone in the selenium deficiency group, iodine deficiency group, and combined selenium and iodine deficiency group (all P < 0.05); however, the expressions of Bcl-2 and Bax were not significantly different among these three groups (P > 0.05). CONCLUSION: Selenium and/or iodine deficiency may induce chondrocyte apoptosis.

Features of intervertebral disc degeneration in rat's aging process.

OBJECTIVE: The age-related change is important part of degenerative disc disease. However, no appropriate animal model or objective evaluation index is available. This study aimed to investigate the features of intervertebral disc degeneration in aging process of rats. METHODS: 22-month-old Sprague-Dawley (SD) rats were used as spontaneously occurring intervertebral disc degeneration models and 6-month-old rats as young controls. Expression of collagen types II and X was measured by immunohistochemistry. Degenerations of intervertebral discs were scored according to Miyamoto's method. Numbers and areas of afferent vascular buds were measured. The thicknesses of non-calcified and calcified layers were measured and statistically analyzed. RESULTS: There were less collagen type II expression and more collagen type X expression in the calcified layer of the cartilage endplates and nucleus pulposus in the rats of the aged group than in the young control. There were fewer and smaller afferent vascular buds in the rats of the aged group than in the young control group. The ratio of the non-calcified to the calcified layers in the rats of the aged group significantly decreased, compared with that of the young control group (P<0.01). CONCLUSION: Rats can spontaneously establish intervertebral disc age-related degeneration. The expression of collagen types II and X, numbers and areas of afferent vascular buds, the ratio of the non-calcified to the calcified layers, and water and glycosaminoglycan contents in the nucleus pulposus are sensitive indexes of intervertebral disc degeneration.

[Genetic polymorphism of 15 STR on chromosome 2 and 11 in Shaanxi Han people in China].

OBJECTIVE: To investigate the genetic polymorphism of 15 short tandem repeat(STR)loci on chromosome 2 and chromosome 11 in Shaanxi Han people in China. METHODS: Fluorescence-based gene scan technique was used to examine the genetic polymorphism of 15 STR loci in 175 unrelated individuals from Chinese Han population in Shannxi province. RESULTS: The number of alleles D2S335, D2S396, D2S338, D2S2382, D2S305, D2S151, D2S2368, D2S391,D11S912, D11S4090, D11S4147, D11S4190, D11S4149, D11S4126, and D11S4094 was 11,11,11,10,8,8,9,12 ,7,11,8,10,5,5, and 6. The distribution of allele frequencies of the 15 STR was consistent with Hard-Weinberg equilibrium (P > 0.05). Heterozygosity (H) value was 0.4216 to approximately 0.8517, the average power of discrimination (DP) was 0.6568 to approximately 0.9598, polymorphism information content (PIC) was 0.4078 to approximately 0.8366, and probability of paternity exclusion (EPP) was 0.3135 to approximately 0.8537. CONCLUSION: The 15 STR loci have relatively high genetic polymorphism in Shaanxi Han population, which provides the genetic structure of Chinese Han groups, and is also useful in anthropology and forensic science.

[Familial aggregation and sibling heritability in Kashin-Beck disease].

OBJECTIVE: To explore the family aggregation and the role of hereditary factors in the pathogenesis of Kashin-Beck disease (KBD). METHODS: With a stratified sampling method, the general population of 14 villages of Linyou County were studied, from whom 225 KBD probands were selected using systematic sampling at the rate of (1/2). A total of 304 siblings of the probands were ascertained, and in these sibling pairs, the segregation ratio, heritability in different age groups and weighted mean heritability of the siblings were estimated using the methods of Li-Mantel-Grart and Falconer. RESULTS: The KBD distribution scope in the KBD families exceeded the scope of binomial distribution (P<0.001), suggesting obvious family aggregation. The prevalence rate in the siblings of the KBD pedigree was 19.41% (59/304), significantly higher than that in the 14 KBD villages [10.90% (1180/10823), chi2=21.62, P<0.001]. The segregation ratio and heritability in the siblings of the KBD pedigrees were 0.061 and 28.61%, respectively. CONCLUSION: As a polygenetic inheritance disease, KBD exhibits obvious familial aggregation, and genetic susceptibility accounts for (1/4) of the risk factors for KBD.

[Analysis of genetic polymorphisms of 10 STR loci on chromosome 11 in a Shaanxi Han population].

D11S1760, D11S4102, D11S4116, D11S4207, D11S4162, D11S914, D11S4127, D11S917, D11S4146 and D11S915 of 10 short tandem repeat (STR) loci on chromosome 11 were analyzed by fluorescence-based gene scan technique to understand the genetic polymorphisms of those STR loci on chromosome 11 in a Han population in Shaanxi province. The results showed that the number of alleles and genotypes observed at loci D11S1760, D11S4102, D11S4116, D11S4207, D11S4162, D11S914, D11S4127, D11S917, D11S4146 and D11S915 were 17, 11, 15, 11, 4, 6, 7, 12, 11 and 13 for alleles and 41, 18, 36, 30, 8, 10, 16, 30, 29 and 32 for genotypes, respectively. All the 10 loci were in Hardy-Weinberg equilibrium. The heterozygosities of each STR locus was 86.72%, 67.95%, 83.90%, 85.96%, 58.18%, 57.63%, 72.60%, 72.73%, 77.87% and 86.40%. It concluded the 10 loci on chromosome 11 were relatively highly genetic polymorphic in Han populations and could provide useful markers for genetic studies.

[Genetic polymorphism analysis of 8 short tandem repeat loci on chromosome 2 in Chinese Han population in Shaanxi Province].

OBJECTIVE: To analyze the genetic polymorphism of 8 short tandem repeat (STR) loci on human chromosome 2 in Chinese Han population in Shaanxi Province. METHODS: Blood samples anticoagulated with EDTA were collected from 176 unrelated Chinese Han individuals in Shaanxi Province. The DNA was extracted for PCR amplification of the relevant fragments, and the amplified products were analyzed using the ABI 3730 Genetic Analyzer. RESULTS: On human chromosome 2, the loci D2S112, D2S162, D2S2330, D2S2216, D2S347, D2S259, D2S319 and D2S168 had 7, 11, 9, 8, 9, 9, 8 and 13 alleles, respectively, with 15, 33, 23, 18, 13, 12, 25 and 33 genotypes for the corresponding alleles. The genotype distribution of all the 8 loci met Hardy-Weinberg equilibrium. The heterozygosities for the 8 STR loci were 0.6985, 0.8274, 0.8042, 0.6816, 0.6541, 0.5213, 0.8432 and 0.8091, with polymorphic information content of 0.6911, 0.8199, 0.7891, 0.6809, 0.6388, 0.5187, 0.8372 and 0.8049, respectively. CONCLUSION: The 8 loci on chromosome 2 have high heterozygosity and polymorphic information content in Chinese Han population, suggesting their value as useful genetic markers.