genotype

摘要： The secoisolariciresinol diglycoside(SDG)lignan of oil flax(Linum usitatissimum L.)is influenced by genotype,environment and the interaction of genotype×environment.This field study was conducted to investigate the effects of genotype and environment on the SDG lignan content,six genotypes(Longya 8,Zhangya 2,Linxiabai,Shandanbai,Gaolanbai,and DYMS)were sown under eight locations(Hohhot,Datong,Minle,Yili,Shuangta,Jingtai,Guyuan,and Zhangjiakou)in 2014 and 2015 in China.The experimental design was a randomized complete block with three replications.Results showed that Longya 8 had the highest SDG lignan content(7.27mg/g)and Shandanbai had the lowest(4.71 mg/g)across 16 environments.The SDG lignan content ranged from 4.70 mg/g at Datong to 7.74 mg/g at Minle Research Station.In the present study,the results indicated that differences among genotypes in SDG lignan content accounted for 51.38%variation of the total variation and environments accounted for 44.40%variation of the total variation.Moreover,we found that the altitude had a positive effect on SDG lignan content of flaxseed,presumably owing to differences in temperature,humidity,sunshine time,etc.These results indicated that the SDG lignan content was genetically controlled,and was also to be influenced by environmental conditions,especially altitude.

摘要： Mechanized grain harvest of maize becomes increasingly important with growing land plot size in Northeast China. Grain moisture is an important factor affecting the performance of mechanized grain harvest. However, it remains unclear what influences grain dehydration rate. In this study, maize grain dehydrating process was investigated in a two-year field experiment with five hybrids under two planting densities in 2017 and 2018. It was found that damaged-grain ratio was the main factor affecting mechanized harvest quality, and this ratio was positively correlated with grain moisture content at harvest(R^(2)=0.6372, P<0.01). To fulfill the national standard of <5% damaged-grain ratio for mechanized grain harvest, the optimal maize grain moisture content was 22.3%. From silking to physiological maturity, grain dehydrating process was mostly dependent on the thermal time(growing degree days, GDDs)(r=-0.9412, P<0.01). The average grain moisture content at physiological maturity was 29.4%. Thereafter, the linear relationship between GDDs and grain moisture still existed, but the correlation coefficient became smaller(r=-0.8267, P<0.01). At this stage, grain dehydrating process was greatly affected by genotypes. Grain dehydrated faster when a hybrid has a smaller husk area(r=0.6591, P<0.05), larger ear angle(r=-0.7582, P<0.05), longer ear peduncle(r=-0.9356, P<0.01) and finer ear(r=0.9369, P<0.01). These parameters can be used for breeders and farmers to select hybrids suitable for mechanized grain harvest.

摘要： Recent evidence points towards the role of genotype to understand the phenotype,predict the natural course and long term outcome of patients with progressive familial intrahepatic cholestasis(PFIC).Expanded role of the heterozygous transporter defects presenting late needs to be suspected and identified.Treatment of pruritus,nutritional rehabilitation,prevention of fibrosis progression and liver transplantation(LT)in those with end stage liver disease form the crux of the treatment.LT in PFIC has its own unique issues like high rates of intractable diarrhoea,growth failure;steatohepatitis and graft failure in PFIC1 and antibody-mediated bile salt export pump deficiency in PFIC2.Drugs inhibiting apical sodium-dependent bile transporter and adenovirus-associated vector mediated gene therapy hold promise for future.

摘要： BACKGROUND Hepatitis C virus(HCV)causes a large number of infections worldwide.New infections seem to be increasing according to a report of the World Health Organization in 2015.Although direct-acting antivirals are quite effective for most genotypes of the HCV,some genotypes fail to respond.Therefore,the trend of genotype distribution is vital to better control the development of this infection.AIM To analyze the distribution and trends of the HCV genotype before and after the emergence of direct-acting antivirals in China.METHODS We searched all literature published in five electronic databases-China National Knowledge Infrastructure,Wan Fang Data,VIP Chinese Journal Database,Chinese Biomedical Literature Service System,and PubMed-from January 1,2010 to December 31,2020.The search strategy combined medical subject headings and free-text terms,including“hepatitis C virus”or“HCV”and“genotype”or“subtype”and“China”or“Chinese”.Additional relevant articles were searched by manual selection.Data were extracted to build a database.All of the data were totaled according to regions,periods,routes of transmission,and sexes.The percentages in various stratifications were calculated.RESULTS There were 76110 samples from 30 provinces included in the study.Genotype 1(G1)accounted for 58.2%of cases nationwide,followed by G2,G6,G3b,G3a,unclassified and mixed infections(17.5%,7.8%,6.4%,4.9%,1.8%,and 1.2%,respectively).The constitution of genotype varied among different regions,with G6 and G3b being more common in the south and southwest,respectively(28.1%,15.4%).The past ten years have witnessed a decrease in G1 and G2 and an increase in G3 and G6 in almost all regions.The drug-use population had the most abundant genotypes,with G6 ranking first(33.3%),followed by G1 and G3b(23.4%,18.5%).CONCLUSION G3 and G6 pose a new challenge for HCV infection.This study revealed the distribution of HCV genotypes in China over the past 10 years,providing information for HCV management strategies.

摘要： Cryptosporidium is an emerging single-cell zoonotic pathogen.By invading human and animal small intestinal epithelial cells,the host produces a variety of clinical symptoms,mainly diarrhea.Spores of Cryptosporidium can be transmitted through water-borne,food-borne,and mutual transmission between hosts,which has important public health significance.Studies have shown that non-human primates can be infected with multiple Cryptosporidium genotypes.Moreover,this species has a high genetic similarity with humans,so it needs to be taken seriously.This article reviews the infection rates,genotypes,and zoonotic risk of Cryptosporidium in non-human primates.

摘要： Research significance:Dance symbolizes rhythmic body movements to music intending expression of an idea or emotion that delights the performer.Bharatanatyam,an imperative form of Indian Classical dance,has therapeutic implications including enhancement of cognitive function.Neurotrophins belonging to the nerve growth factor family essentially regulate neuronal growth,development and maintenance.The Brain-Derived Neurotrophic Factor(BDNF)is a member of this family.Long-term memory and learning are vitally influenced by BDNF.In Bharatanatyam,new movements are learntand they are practiced until perfection.Every newly learntmovement initially stays in short-term memory and with practice,it reaches the long-term memory.And thus,a favorableincrease in plasma BDNF levels can be associated with Bharatanatyam.In the BDNF gene,rs6265 is a common single nucleotide polymorphism,which results in a valine(Val)being substituted with methionine(Met)in the prodomainat codon 66(Val66Met).This genetic variation affects the BDNF protein’s activity-dependent release.Research methods:With an intention to delve into the link between BDNF gene variants and Bharatanatyam,we conducted an observational research study on 93 participants with their due consent.The study group included 45 dancers and 48 non-dancers.Results anddiscussion:Genotype suggesting optimal BDNF production was proportionately higher in dancers(40%)than non-dancers.Many of the dancers with optimal BDNF genotype expressed a feeling of happiness as their mental status after one hour of dancing and also took up other exercises(like skating/badminton/basketball player etc)as well.While amongst dancers with sub-optimal BDNF genotype,most of them did not take up any other exercise(like skating/badminton/basketball player etc)andalso expressed a blank feeling as their mental status after one hour of dancing.Thus,BDNF has an evident role in the formation of new learning and memory.

摘要： BACKGROUND Entecavir(ETV)is a potent and selective nucleotide analog with significant activity against hepatitis B virus(HBV).ETV maleate is a derivative compound of ETV and was reported to have an efficacy and safety profile that is comparable to ETV(Baraclude)when used in Chinese patients with chronic hepatitis B(CHB)in phase III clinical trials(Clinical Trials.gov number,NCT-01926288)at weeks 48,96,and 144.AIM To investigate the antiviral potency and safety of ETV maleate at week 192 in Chinese CHB patients predominantly genotyped B or C.METHODS In this double-blind study,we randomly assigned patients to receive 0.5 mg/d ETV(Group A)or ETV maleate(Group B)(ratio,1:1),each with a placebo tablet for 48 wk.Then,all patients received open-label treatment with 0.5 mg/d ETV maleate starting at week 49.The primary efficacy endpoint was the reduction in HBV DNA levels from baseline.Secondary endpoints included the proportion of patients with undetectable HBV DNA(0.05),viral suppression with HBV DNA0.05)and HBe Ag seroconversion(28.77%vs 20.00%,P>0.05)occurred similarly between Groups A and B at week 192.However,there was a significant difference in the proportion of patients with normal ALT levels(91.14%vs 78.38%,P0.05),percentages of patients who achieved undetectable HBV DNA(100%vs 100%,P>0.05)and rates of ALT normalization(95.65%vs 100.00%,P>0.05).Safety and adverse event profiles were similar between Groups A and B.Two HBe Ag-positive patients in Group A and 5 in Group B developed genotypic resistance to ETV.CONCLUSION Long-term ETV maleate treatment for up to 192 wk is effective and safe in Chinese CHB patients predominantly genotyped as B or C.

摘要： Genetic association studies usually apply the simple chi-square (χ2)-test for testing association between a single-nucleotide polymorphism (SNP) and a particular phenotype, assuming the genotypes and phenotypes are independent. So, the conventional χ2-test does not consider the increased risk of an individual carrying the increasing number of disease responsible allele (a particular genotype). But, the association tests should be performed with the consideration of this disease risk according to the mode of inheritance (additive, dominant, recessive). Practical demonstration of the two possible methods for considering such order or trends in contingency tables of genetic association studies using SNP genotype data is the purpose of this paper. One method is by pooling the genotypes, and the other is scoring the individual genotypes, based on the disease risk according to the inheritance pattern. The results show that the p-values obtained from both the methods are similar for the dominant and recessive models. The other important features of the methods were also extracted using the SNP genotype data for different inheritance patterns.

摘要： Background: Rheumatoid arthritis (RA) is a common autoimmune disease in which a combination of risk alleles from different susceptibility genes predisposes the patients to develop clinical symptoms following exposure to environmental factors. RA is a chronic and progressive disease characterized by synovial inflammation that results in destruction in the affected joints and severe problems in individual’s mobility. Several immune-related risk factors have been associated with RA, these include single nucleotide polymorphisms (SNPs) in cytokine genes. The impact of these cytokine gene polymorphisms is due to their association either with elevated serum levels and/or variations in their serum levels are associated with disease-onset and progression. The objective of this study was to investigate the role of Interleukin-6 (IL6), Interleukin-13 (IL13) and Tumor necrosis factor-alpha (TNF-alpha) gene polymorphisms in genetic susceptibility of RA in Kuwaiti patients. Methods: We have determined the genotypes of IL6 gene (-174G/C;rs1800795), IL13 gene (R130Q;rs20541) and TNF-alpha gene (-308A/G' rs1800629) polymorphisms in 192 Kuwaiti patients with RA and compared it to that in 104 healthy controls. The diagnosis of RA was based on the American College of Rheumatology (ACR) classification criteria. The genotypes for IL6, IL13 and TNF-alpha gene polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods and confirmed by DNA sequencing. Results: The frequency of IL6 gene (-174G/C;rs1800795) and TNF-alpha gene (-308A/G' rs1800629) polymorphisms manifested a statistically significant difference between Kuwaiti RA patients and controls (P = 0.02 and 0.002 respectively). In contrast, the frequency of IL13 gene (R130Q;rs20541) polymorphism did not show a significant difference between Kuwaiti RA patients and controls. Conclusions: Our data showed an association of two cytokine gene polymorphisms (i.e. IL6 gene -174G/C;rs1800795 polymorphism, and TNF-alpha gene -308A/G, rs1800629 polymorphism) with RA in Kuwaiti patients highlighting their significant contribution in genetic susceptibility of this chronic disease possibly along with other factors.

摘要： BACKGROUND Metabolic syndrome(MetS)is related to poor cognitive function.However,the results of previous studies were inconsistent,and whether the ApoEε4 allele modifies the association remains unclear.AIM To elucidate the relationships among MetS,ApoEε4,and cognitive dysfunction in an elderly population in China.METHODS One hundred elderly patients with MetS and 102 age-and gender-matched controls were included in the study.Baseline clinical characteristics and biochemical index for glucose and lipid metabolism were obtained.The distribution of ApoEε4 was assessed with PCR restriction fragment length polymorphism analysis.Cognitive function was evaluated by mini-mental status examination at the 1-year follow-up examination.RESULTS Compared with controls,MetS patients had worse cognitive function and decreased ability to participate in activities of daily life(P=0.001 and 0.046,respectively).Patients with cognitive dysfunction had higher prevalence of MetS(62.1%vs 36.4%,P<0.001)and were more likely to carry the ApoEε4 allele(22.3%vs 10.1%,P=0.019).Multivariate logistic regression analyses showed that diagnosis with MetS,severe insulin resistance,status as an ApoEε4 carrier,higher systolic blood pressure,and larger waist circumference were risk factors for cognitive dysfunction(P<0.05).Repeated-measures analysis of variance,performed with data collected at the 1-year follow-up,revealed continuous influences of MetS and ApoEε4 on the deterioration of cognitive function(time×team,P<0.001 for both).CONCLUSION Diagnosis of MetS and ApoEε4 carrier status were persistently associated with cognitive dysfunction among an elderly population in China.