Association between SLC2A9 Genetic Variants and Risk of Hyperuricemia in a Uygur Population

This study aimed to test the effects of five single nucleotide polymorphisms within SLC2A9 on uric acid level in a special ethnic population,the Uygurs in Xinjiang,China.According to our inclusion and exclusion criteria,Uygur adults from Xinjiang constituted the study population.There were 1053 Uygur adults with hyperuricemia and 1373 normal Uygur adults who served as controls.Five single nucleotide polymorphisms within SLC2A9(rs938557,rs7679916,rs7349721,rsl3101785,and rs 13137343)were selected with the HapMap dataset and TaqMan assays.We found that,in normouricemia group,rs938557 was significantly correlated with uric acid(β=11.39±3.74,P=0.0024)adjusting for age,gender and BMI;rs7679916 and rsl3137343 were marginally associated with uric acid concentration(β=5.77±3.O9,P=0.0626;p=-5.99±3.08,P=0.0520).In the hyperuricemia group,no SNP was found to possibly influence uric acid concentration.None of these SNPs showed significant association with hyperuricemia after controlling for age,gender and BMI.There were significant or marginal correlations between certain single nucleotide polymorphisms in the SLC2A9 region and uric acid concentration in Uygur normouricemia samples.In turn,some of these single nucleotide polymorphisms in SLC2A9 may increase the risk of hyperuricemia.

ABCG2和SLC2A9在高尿酸血症和痛风发病中作用的研究进展

ABCG2和SLC2A9编码尿酸转运蛋白ABCG2和GLUT9。ABCG2单核苷酸多态性(SNP)可以使ABCG2蛋白表达减少、转运功能下降,继而引发肠道尿酸排泄功能障碍,导致血尿酸升高。SLC2A9对血尿酸的调节较为复杂,该基因功能缺失会引起肾小管尿酸重吸收减少、肠道尿酸排泄障碍和肝脏摄取尿酸障碍。ABCG2通过引起高尿酸血症(HUA)和增加炎性反应促进痛风发作。SLC2A9功能缺失反而可以减轻氧化和炎性反应。此外,ABCG2与早发痛风有着密切关系,其SNP是早发痛风的危险因素。

SLC2A9基因单核苷酸多态性与吡嗪酰胺致高尿酸血症易感性关系

目的探讨云南地区汉族人群SLC2A9基因单核苷酸多态性与吡嗪酰胺致高尿酸血症(pyrazinamide induced hyperuricemia,PIHU)的易感性关系。方法应用Mass ARRAY法对294例PIHU患者(试验组)和220例非PIHU患者(对照组)的SLC2A9基因单核苷酸多态性位点rs2280205、rs3733591、rs3775948、rs10939650基因型进行检测,比较基因型及等位基因频率分布,分析不同遗传模型下4个位点多态性与PIHU的易感性关系。结果2组间rs2280205位点基因型频率及等位基因频率分布比较,差异有统计学意义(P<0.05),携带等位基因A的患者PIHU风险增高;rs2280205位点多态性在共显性、显性、隐性模型下与PIHU显著相关(均P<0.05)。rs3733591位点基因型频率及等位基因频率在2组间分布比较,差异有统计学意义(P<0.05),携带等位基因T的患者PIHU风险增高;rs3733591位点多态性在共显性、显性、隐性模型下与PIHU显著相关(均P<0.05)。rs3775948位点基因型频率及等位基因频率在2组间分布比较,差异有统计学意义(均P<0.001),携带等位基因C的患者PIHU风险增高;rs3775948位点多态性在共显性和显性模型下与PIHU显著相关(均P<0.05)。rs10939650位点基因型频率及等位基因频率在2组间分布比较,差异有统计学意义(均P<0.001),携带等位基因C的患者PIHU风险增高;rs10939650位点多态性在共显性和隐性模型下与PIHU显著相关(均P<0.05)。结论SLC2A9基因rs2280205、rs3733591、rs3775948、rs10939650位点多态性可能与云南地区汉族人群PIHU的易感性相关,rs2280205位点等位基因A、rs3733591位点等位基因T、rs3775948位点等位基因C、rs10939650位点等位基因T可能是发生PIHU的风险因素。

Cloning and Phylogenetic Analysis of NS1 Genes from Different Isolates of H9N2 Subtype Duck Influenza Virus

[ Objective] The study aimed to lay a foundation for the further studies on function mechanism of NS1 protein in the interspecies transmission of waterfowl influenza virus. [Method] Using the serologic assay and the specific RT-PCR method, some strains of H9 subtype waterfowl influenza virus were isolated from the 12 to 20 day-old muscovy duck flocks without any clinical symptoms in different areas of Guangdong Province. Four of these strains, including A/duck/ZQ/303/2007（H9N2） （A3 for short）, A/Duck/FJ/301/2007 （H9N2） （C1 for short）, A/Duck/NH/306/2007（H9N2） （ D6 for short）, A/duck/SS/402/2007（H9N2） （ E2 for short）, and a strain named A/duck/ZC/2007（H9N2） （L1 for short） from a muscovy duck died of avian influenza virus （AIV）, were used for NSl gene cloning and sequencing. Subsequently, the obtained NSl gene sequences were compared with other NS1 sequences registered in GenBank, and the phylogenetic analysis was also conducted. [Result] When compared with the H9N2 AIV NS1 sequences in GenBank, the NSl genes of the four AIV strains A3, C1, 136 and E2 displayed homologies ranging from 99% to 100% at nucleotide level, and 95% to 100% at amino acid level; while the NSl gene of L1 strain displayed homology ranging from 94% to 97% at nucleotide level, and 93% to 98% at amino acid level. The phylogenetic tree demonstrated that A3, C1, D6 and E2 were highly resemblant, and L1 was closest to AY66473 （chicken, 2003）. By comparison with the NS1 gene sequences of L1, AF523514 （duck）, AY664743 （chicken） and EF155262.1 （quail） using DNAstar, A3, C1, D6 and E.2 presented nucleotide variations at site 21 （ R→Q）, 70, 71 （ KE→EG）, 86 （ A→S）, 124 （V→M） and 225 （ S→N）, and amino acid variations at site 21,70, 71 and 86 in dsRNA- dependent protein kinase （PKR） binding domain of NSl gene, which induced the evident variations of antigenic determinant and surface proba- bility plot of NS1 protein. [ Conclusion] This study suggested that the amino acid sequence variation in PKR binding domain of NS1 protein had something to do with the virus pathogenicity.

SLC2A9基因R265H位点单核苷酸多态性与痛风易感性的Meta分析

目的探索SLC2A9基因R265H位点突变与痛风易感性间的关联。方法检索6个电子数据库,获得SLC2A9基因R265H位点与痛风相关的文献,对纳入文献进行质量评价后,运用RevMan 5.0和Stata 11.0软件进行Meta分析。结果共纳入文献6篇,包含5 182例参与者（痛风病人1 999例,正常对照3 183例）。经Meta分析发现,SLC2A9基因rs3733591位点SNPs与痛风易感性在TT vs CC＋CT和CC vs TT＋CT模型及C等位基因中存在统计学关联,在CT vs TT＋CC模型中无统计学差异（TT vs CC＋CT：OR=0.71,95%CI=0.61～0.84,P〈0.000 1;CC vs TT＋CT：OR=1.23,95%CI=1.06～1.42,P=0.006;C等位基因：OR=2.39,95%CI=1.98～2.89,P〈0.000 1;CT vs TT＋CC：OR=1.06,95%CI=0.94～1.20,P=0.36）。亚组分析发现,仅TT vs CC＋CT和CC vs TT＋CT模型在亚洲人群中有统计学差异,其余均无统计学差异（TT vs CC＋CT：OR=0.66,95%CI=0.55～0.80,P〈0.000 1;CC vs TT＋CT：OR=1.45,95%CI=1.19～1.77,P=0.003）。纳入研究结果间无异质性及发表偏倚。结论 SLC2A9基因rs3733591位点多态性与痛风易感性在亚洲人群中可能存在关联,且C等位基因可能增加患痛风的风险。

Sequence Analysis of HA Genes from Three H9N2 Subtype Avian Influenza Viruses

[ Objective] The study aimed to understand the genetic characters of H9N2 subtype avian influenza viruses isolated in Belling area. [ Method] HA genes of three H9N2 subtype avian influenza viruses A/Chicken/Beijing/xu/00, A/Chicken/Beijing/bei/00 and A/Chicken/Beijing/ liu/00 were amplified by RT-PCR and then sequenced. [ Result] The results of phylogenetic analysis showed that A/Chicken/Beijing/xu/00, A/ Chicken/Beijing/bei/00 and A/Chicken/Beijing/liu/00 shared the nucleotide homologies of 84.8% （ Dk/HK/Y439/97 ） -98.0% （ Ck/GX17/00 ）, 85.1% （Dk/HK/Y439/97） - 99.1% （ Ck/GXl 7/00）, 90.7% （ Ck/BJ/3/01 ） - 99.1% （Ck/GX17/00） with the isolates from Hongkong and other are- as of Chinese Mainland respectively. At the same time, the analysis of amino acid indicated that the three isolates belonged to low pathogenic H9N2 isolates of avian origin. The 226^th amino acid of them were L （ Leu）, suggesting their high binding affinity to human cells. There were seven glyco- sylation sites in HA protein, five from HA1 and two from HA2. [ Cenclusien] By analysis at molecular level, it could be concluded that A/Chicken/ Beijing/xu/00, A/Chicken/Beijing/bei/00 and A/Chicken/Beijing/liu/00 were low pathogenic H9N2 isolates of avian origin.

Sequence and phylogenetic analysis of hemagglutinin genes of H9N2 influenza viruses isolated from chicken in China from 2013 to 2015

H9N2 avian influenza virus（AIV） infection is a major problem in poultry industry worldwide. In this study, molecular characterizations and phylogenetic relationships of hemagglutinin（HA） gene sequences of H9N2 AIV of 5 Chinese isolates in 2014 recently available in Gen Bank, 3 widely used vaccine strains, and 52 novel isolates in China from 2013 to 2015 were analyzed. The homology analysis showed that the nucleotide sequences of HA gene of these recent Chinese H9N2 AIV isolates shared homologies from 94.1 to 99.9%. Phylogenetic analysis showed that all isolates belonged to AIV lineage h9.4.2.5. Fifty-six out of the 57 recent Chinese H9N2 AIV isolates had the motifs PSRSSR↓GLF at the cleavage sites within the HA protein, while one isolate PWH01 harbored LSRSSR↓GLF. Remarkably, all of the recent Chinese H9N2 AIV strains had the Q216 L substitution in the receptor binding site, which indicated that they had potential to infect humans. Most of recent Chinese H9N2 AIV isolates lost the potential N-linked glycosylation site at residues 200–202 compared with vaccine strains. This present study demonstrated that AIV lineage h9.4.2.5 was more predominant in China than other lineages as it harbored all the H9N2 AIV isolated between 2013 and 2015. Also we showed the importance of continuous surveillance of emerging H9N2 AIV in China and update of vaccine formulation accordingly in order to prevent and control H9N2 AIV.

SLC2A9基因rs7349721位点多态性及基因—环境交互与痛风易感性的关系

目的探讨SLC2A9基因rs7349721位点多态性及基因—环境交互与痛风易感性的关系。方法选取314例痛风男性患者(痛风组)和507例健康体检男性(对照组),采集受试者外周静脉血,采用PCR法检测SLC2A9基因rs7349721位点多态性。采用Logistic回归分析法及叉生分析法分析不同临床病理特征对痛风发病的影响,不同遗传模型痛风易感性及基因—环境的相乘、相加交互作用。结果痛风组SLC2A9基因rs7349721位点AA、AT基因型及等位基因型A分布低于对照组,TT基因型及等位基因型T分布高于对照组(P均<0.05)。血尿酸、血糖、舒张压为痛风发病的危险因素(P均<0.05,OR均>1.00),规律运动为痛风发病的保护因素(P<0.05,OR<1.00)。加性遗传模型中TT为痛风发病的危险因素OR=1.73,95%CI为1.14~2.63,隐性遗传模型中AA+AT为痛风发病的保护因素OR=0.66,95%CI为0.49~0.89。SLC2A9基因rs7349721位点AT+TT基因型与规律运动在相加和相乘交互模型中均为痛风发病的保护因素(P<0.05,OR<1.00)。结论SLC2A9基因rs7349721位点多态性与痛风易感性存在关联,且不同遗传模型与规律运动对痛风易感性存在交互作用。

Sequence Comparison and Analysis of HA Gene of Four H9N2 Avian Influenza Virus Isolates

[ Objective] To determine the HA gene sequences of four H9N2 Avian influenza virus （AIV） strains and carry out comparative analysis so as to understand the difference and variation pattern of each strain from the angle of molecular biology and to know the distribution and epidemic law of H9N2 AIV. [Method] One pair of primers was designed referring to HA gene sequences of H9N2 AIV. The HA genes of A/Chicken/Hebei/WD/98 （H9N2; WD98 for short）, A/Chicken/Hebei/ZD/04 （H9N2; ZD04 for short））, A/Chicken/Beijing/MY/06 （H9N2; MY06 for short） ）, and A/Chicken/Beijing/PG/08 （H9N2; PG08 for short）） were amplified, cloned and sequenced. Then the HA gene sequences of these strains were compared with that of 10 H9N2 AIV stains in GenBank. [Result] The ORF of HA genes of the four strains was 1 683 bp in size, encoding 516 amino acids. The HA gene sequences of the four strains, WD98, MY06, PG08, and ZD04, were 82.6% -95.1%, 83.0% -99.0%, 82.7% -95.5%, and 81.3% -95.7% homologous to that of the 10 H9N2 AIV stains, respectively. And the homology of amino acid was respectively 86.6% -96.3%, 86.6% -97.9%, 87.0% -97.1%, and 86.9% -97.3%. [ Conclusion] The HA gene has greatly high homology among different strains.

过表达人SLC2A9基因的慢病毒载体对HK-2细胞尿酸转运功能的影响

目的构建含人SLC2A9基因的过表达慢病毒载体,探讨其对人肾脏近曲小管上皮细胞株HK-2尿酸转运功能的影响。方法 PCR反应扩增目的基因后连入慢病毒表达载体中构建重组载体pLEX-SLC2A9,使用PCR及测序的方法对其进行鉴定,并与辅助包装质粒共感染293T细胞。慢病毒颗粒感染HK-2细胞后,用PCR和Western blot检测SLC2A9基因的过表达效率,并检测SLC2A9过表达对其尿酸转运功能的影响。结果 PCR及测序结果表明重组慢病毒载体pLEX-SLC2A9的插入序列完全正确,重组慢病毒载体感染HK-2细胞后,细胞内的mRNA及蛋白水平增高,并且可以增强HK-2细胞对尿酸的转运。结论过表达SLC2A9基因后能显著增强HK-2细胞对尿酸的转运。

SLC2A9基因启动子区多态性位点与缺血性卒中的关系

目的探讨SLC2A9基因启动子区单核苷酸多态性位点(SNP)与缺血性卒中之间的关联。方法以101例缺血性卒中患者作为研究对象,抽提外周血DNA,PCR扩增SLC2A9基因启动子区片段,通过DNA测序获得SNP等位基因频率。以"千人基因组计划"所公布的等位基因频率作为对照,比较两者SNP等位基因频率的差异。采用生物信息学软件预测SNP所在区域是否存在潜在的转录调控元件。结果成功对101例缺血性卒中患者进行了SLC2A9基因启动子区的基因筛查,在SLC2A9基因启动子区(-1 100～+200)范围内共筛查到7个SNP。经Hardy-Weinberg平衡2检验表明,各SNP位点均已达遗传平衡(P>0.05)。缺血性卒中患者SLC2A9基因启动子区SNP2、SNP5和SNP7位点等位基因频率与"千人基因组计划"所公布的比较,差异有统计学意义(P<0.05)。利用在线分析软件预测发现,含SNP5野生型等位基因序列存在结合GATA-1的转录因子结合元件,而含SNP5变异型等位基因的序列不存在转录因子结合元件;SNP7不同等位基因的同一序列存在相同的转录因子结合元件。结论 SLC2A9基因启动子区SNP位点可作为缺血性卒中的筛查对象。

新疆地区维吾尔族和汉族人群SLC2A9基因rs938557C/T多态性与高尿酸血症的相关性

目的研究新疆地区维吾尔族(维族)、汉族人群可溶性载体2家族成员9基因(SLC2A9)rs938557 C/T多态性的差异及该基因位点多态性与高尿酸血症的相关性。方法纳入2013年新疆医科大学附属医院汉族、维族高尿酸血症患者和尿酸正常者共3 644例作为研究对象,其中汉族1 278例,维族2 366例;检测研究对象血清尿酸(UA)、三酰甘油(TG)、总胆固醇(TC)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)和空腹血糖(FBG)等指标;用多重高温连接酶检测反应(i MLDR)检测SLC2A9基因rs938557位点多态性。结果汉族人群UA、TC、HLD-C和LDL-C均高于维族(P均<0.05),而体质指数(BMI)、收缩压(SBP)和TG均低于维族(P均<0.05)。维族SLC2A9基因rs938557位点各基因型频率分别为CC=60.8%、CT=34.5%、TT=4.7%,汉族分别为CC=45.7%、CT=41.9%、TT=12.4%,维、汉族各基因型频率差异有统计学意义(χ2=113.637,P=0.000);维族SLC2A9基因rs938557位点T和C等位基因的频率分别为78%和22%,汉族分别为66.6%和33.4%,差异有统计学意义(χ2=112.516,P=0.000)。汉族人群TT基因型频率(12.4%)及T等位基因频率(33.4%)均高于维族(4.7%和22%),差异均有统计学意义(P均<0.05)。按维、汉族SLC2A9基因rs938557位点CC+CT基因型与TT基因型分组,各生化指标间差异均无统计学意义(P均>0.05)。维、汉族高尿酸血症组和尿酸正常组SLC2A9基因rs938557位点基因型和等位基因频率差异均无统计学意义(P均>0.05)。排除基因与BMI、性别、血压的交互作用后,未发现维、汉族SLC2A9基因rs938557位点与尿酸水平和高尿酸血症之间的相关性(P>0.05)。结论 SLC2A9基因rs938557位点多态性虽然存在一定的民族差异,但与高尿酸血症之间没有相关性。

沿海地区人群高尿酸血症患病率及其与SLC2A9基因rs2241480位点多态性的关系

目的 了解深圳沿海地区人群高尿酸血症(hyperuricemia,HUA)患病率现状,并探讨HUA与SLC2A9基因rs2241480位点多态性的相关性,为HUA的诊断和治疗提供科学依据。方法 随机选取2018年3~7月居住在沿海地区的人群2 753例,应用AU5800全自动生化分析仪检测血清中尿酸(uric acid,UA)含量,采用Sequenom Mass Array iPlex Gold技术对HUA患者和120例非HUA人群的SLC2A9基因rs2241480位点多态性进行检测和统计分析。结果 2 753例人群中检出425例HUA,患病率为15.44%,其中男性18.27%,女性11.55%,男性高于女性,差异有统计学意义(χ^2=3.782 1,P<0.05)。>60岁组的HUA患病率最高,为30.67%,其次为51~60岁组和41~50岁组,分别为21.18%和15.09%,各年龄组之间的差异均有统计学意义(χ^2=2.168 3~3.418 6,P<0.05)。60岁及以下各组男性HUA患病率均高于女性,差异有统计学意义(χ^2=2.761 5~3.905 2,P<0.05),但>60岁组HUA患病率女性高于男性,差异有统计学意义(χ^2=2.036 5,P<0.05)。HUA组SLC2A9基因rs2241480位点CC、CT及TT基因型检出率分别为44.71%、30.82%及24.47%,非HUA组分别为18.33%、37.50%及44.17%,HUA组CC基因型检出率高于非HUA组,差异有统计学意义(χ^2=5.162 5,P<0.05)。HUA组C等位基因频率为60.12%,明显高于非HUA组的37.08%,差异有统计学意义(χ^2=3.602 4,P<0.05)。结论 深圳沿海地区人群HUA患病率处于国内平均水平之上,且呈低龄化趋势。SLC2A9基因rs2241480位点多态性与HUA有一定的相关性,CC基因型和C等位基因可能是导致本区HUA患病的致病基因。

Generation of tryptophan hydroxylase 2 gene knockout pigs by CRISPR/Cas9-mediated gene targeting

Unbalanced brain serotonin(5-HT) levels have implications in various behavioral abnormalities and neuropsychiatric disorders. The biosynthesis of neuronal 5-HT is regulated by the rate-limiting enzyme, tryptophan hydroxylase-2(TPH2). In the present study, the clustered regularly interspaced short palindromic repeat(CRISPR)/CRISPR-associated(Cas) system was used to target the Tph2 gene in Bama mini pig fetal fibroblasts. It was found that CRISPR/Cas9 targeting efficiency could be as high as 61.5%, and the biallelic mutation efficiency reached at38.5%. The biallelic modified colonies were used as donors for somatic cell nuclear transfer(SCNT) and 10 Tph2 targeted piglets were successfully generated. These Tph2 KO piglets were viable and appeared normal at the birth.However, their central 5-HT levels were dramatically reduced, and their survival and growth rates were impaired before weaning. These Tph2 KO pigs are valuable large-animal models for studies of 5-HT deficiency induced behavior abnomality.

血尿酸水平的影响因素及与SLC2A9基因多态性的关系

目的探讨血尿酸(UA)水平的影响因素及与SLC2A9基因多态性的关系。方法选取上海市杨浦区中心医院健康体检中心接受体检的2000例体检人群,检测血压、血糖、血脂等生化指标,并检测分析SLC2A9基因单核苷酸多态性(SNP)位点rs2241480。按照UA水平分为高UA组217例,中UA组1705例,低UA组78例,比较各组生化指标及SLC2A9基因分型,分析UA与SLC2A9基因多态性的关系。结果体检人群中高尿酸血症(HUA)患病率为10.85%,男性HUA患病率为12.92%,显著高于女性(8.48%),差异有统计学意义(P<0.05)。随着UA水平的增高,体质量指数(BMI)、收缩压(SBP)、舒张压(DBP)、空腹血糖(FBG)、总胆固醇(TC)、三酰甘油(TG)、低密度脂蛋白胆固醇(LDL-C)、血尿素氮(BUN)、肌酐(Cr)明显升高,高密度脂蛋白(HDL-C)明显降低,差异有统计学意义(P<0.05)。不同UA水平的体检者rs2241480位点基因的分型比较,差异有统计学意义(P<0.05)。男性(OR=1.99)、BMI(OR=3.01)、SBP(OR=3.77)是HUA的独立危险因素,HDL-C(OR=0.27)、rs2241480位点基因分型(CC,OR=0.41)则是保护因素(P<0.05)。结论血压、血脂等传统心血管危险因素均是血UA水平的独立危险因素,SLC2A9基因多态性与HUA的发生可能存在一定相关性。

N-myc downstream regulated gene 1 inhibition of tumor progression in Caco2 cells

BACKGROUND Invasion and migration are the irreversible stages of colorectal cancer(CRC).The key is to find a sensitive,reliable molecular marker that can predict the migration of CRC at an early stage.N-myc downstream regulated gene 1(NDRG1)is a multifunctional gene that has been tentatively reported to have a strong relationship with tumor invasion and migration,however the current molecular role of NDRG1 in CRC remains unknown.AIM To explore the role of NDRG1 in the development of CRC.METHODS NDRG1 stably over-expressed Caco2 cell line was established by lentiviral infection and NDRG1 knock-out Caco2 cell line was established by CRISPR/Cas9.Furthermore,the mRNA and protein levels of NDRG1 in Caco2 cells after NDRG1 over-expression and knockout were detected by real-time polymerase chain reaction and western blot.The cell proliferation rate was measured by the cell counting kit-8 method;cell cycle and apoptosis were detected by flow cytometry;invasion and migration ability were detected by the 24-transwell method.RESULTS NDRG1 over-expression inhibited Caco2 proliferation and the cell cycle could be arrested at the G1/S phase when NDRG1 was over-expressed,while the number of cells in the G2 phase was significantly increased when NDRG1 was knocked out.This suggests that NDRG1 inhibited the proliferation of Caco2 cells by arresting the cell cycle in the G1/S phase.Our data also demonstrated that NDRG1 promotes early cell apoptosis.Invasion and migration of cells were extensively inhibited when NDRG1 was over-expressed.CONCLUSION NDRG1 inhibits tumor progression in Caco2 cells which may represent a potential novel therapeutic strategy for the treatment of CRC.

Construction and Functional Analysis of CRISPR/Cas9 Vector of FAD2 Gene Family in Soybean

Soybean oleic acid content is one of the important indexes to evaluate the quality of soybean oil.In the synthesis pathway of soybean fatty acids,the FAD2 gene family is the key gene that regulates the production of linoleic acid from soybean oleic acid.In this study,CRISPR/Cas9 gene editing technology was used to regulate FAD2 gene expression.Firstly,the CRISPR/Cas9 single knockout vectors GmFAD2-1B and GmFAD2-2C and double knockout vectors GmFAD2-2A-3 were constructed.Then,the three vectors were transferred into the recipient soybean variety Jinong 38 by Agrobacterium-mediated cotyledon node transformation,and the mutant plants were obtained.Functional analysis and comparison of the mutant plants of the T2 and T3 generations were carried out.The results showed that there was no significant difference in agronomic traits between the CRISPR/Cas9 single and double knockout vectors and the untransformed CRISPR/Cas9 receptor varieties.The oleic acid content of the plants that knocked out the CRISPR/Cas9 double gene vector was significantly higher than that of the single gene vector.

SLC2A9(GLUT9)和SLC22A12(URAT1)基因变异对高尿酸血症和痛风发展

尿酸盐转运体位于肾脏,对体内的尿酸水平有很大影响。我们观察了编码主要重吸收蛋白GLUT9(SLC2A9)和U-RAT1(SLC22A12)的基因的遗传变异及其与高尿酸血症和痛风的关系。在250名原发性高尿酸血症和痛风患者中,我们用直接测序的方法检测了SLC22A12和SLC2A9基因。根据临床数据、生化参数、代谢综合症的标准以及我们之前对主要分泌型尿酸盐转运蛋白ABCG2的分析,对识别出的变异进行了评估。我们检测到SLC2A9的7个非同义变体。没有SLC22A12的非同义变异体。SLC2A9的11个变异体和SLC22A12的两个变异体在我们的队列中明显高于欧洲人群(P=0),而p.V282I和c.1002+78A>G的变异体在我们的队列中出现的频率很低(p=0)。由于变异与尿酸水平之间的关联尚未得到证实,因此应谨慎评.估变异对高尿酸血症和痛风发生的影响。然而,与其他研究的结果一致,我们的数据表明p.V282I和C.1002+78A>G(SLC2A9)降低了痛风的风险,而p.N82N(SLC22A12)增加了痛风的风险。

Short communication: genetic variations of SLC2A9 in relation to Parkinson’s disease

Background:Epidemiological studies showed that higher plasma urate was associated with lower risk for Parkinson’s disease(PD)and slower disease progression.Recent genome-wide association studies(GWAS)consistently showed that several single nucleotide polymorphisms(SNPs)in the solute carrier family 2 member 9 gene(SLC2A9)were associated with plasma urate concentration and the risk of gout.Methods:We conducted a case–control study to examine twelve tag SNPs of the SLC2A9 gene in relation to PD among 788 cases and 911 controls of European ancestry.Odds ratios(OR)and 95%confidence intervals(CI)were derived from logistic regression models,adjusting for age,sex,smoking and caffeine consumption.Results:These SNPs were all in linkage disequilibrium(R^(2)>0.7).None of them were associated with PD risk.Among women,however,there was a suggestion that the presence of the minor allele of one SNP(rs7442295)was related to a small increase in PD risk[OR(95%CI)=1.48(1.01-2.16)].Conclusion:This study provides little support for genetic variations of SLC2A9 and PD risk.

Genome Sequencing and Phylogenetic Analysis of Three Avian Influenza H9N2 Subtypes in Guangxi

Three isolates of H9N2 Avian Influenza viruses (AIV) were isolated from chickens in Guangxi province. Eight pairs of specific primers were designed and synthesized according to the sequences of H9N2 at GenBank. phylogenetic analysis showed a high degree of homology between the Guangxi isolates and isolates from Guangdong and Jiangsu provinces, suggesting that the Guangxi isolates originated from the same source. However, the eight genes of the three isolates from Guangxi were not in the same sublineages in their respective phylogenetic trees, which suggests that they were products of natural reassortment between H9N2 avian influenza viruses from different sublineages. The 9 nucleotides ACAGAGATA which encode amino acids T, G, I were absent between nucleotide 205 and 214 in the open reading frame of the NA gene in the Guangxi isolates. AIV strains that infect human have, in their HA proteins, leucine at position 226. The analysis of deduced amino acid sequence of HA proteins showed that position 226 of these isolates contained glycine instead of leucine, suggesting that these three isolates differ from H9N2 AIV strains isolated from human infections.