简介：Encodingsinpolymorphismwithfiniteproducttypesareconsidered.TheseencodingsaregivenintermsofI-algebras.Theyhavethpropertythatthegroundtermsarepreciselytheclosednormaltermsoftheencodedtypes.Theproofofawell-knownresultistransplantedtothesettinganditisshownwhyweakrecursionisadmissible.Thepaperalsoshowshowtocarryoutthedualencodingsusingtheexistentialquantifier.

简介：Objective:Toclone,sequenceandexpresstheprimateβ-chemokineRANTESgenes,hRANTESfromH.sapiensandmRANTESfromM.Mulatta,inordertoexplorethepossibilityofAIDSgenetherapy.Methods:hRANTESandmRANTESwereamplifiedbyreversetranscription-polymerasechainreaction(RT-PCR)fromRNAsextractedfromphytoagglutinin(PHA)-activatedperipheralbloodlymphocytes,hRANTESwascloned,sequencedandexpressedinvitro,andmRANTESwasdirectlysequencedforhomologycomparison.Results:Anexpected276bpfragmentwasobtainedinbothamplifications,andsequencedatademonstratedarelativelyhighhomologyamongdifferentcopiesofhRANTES(97%),andhRANTESwasupto95.6%homologoustomRANTES.WhencomparedwithRANTESfromothermammals,hRANTESgaverisetoahomologyrangingfrom77%to86%.TheclonedhRANTESwasexpressedinvitroandapositivesignalofRANTESwasdetectedbydotblotting.Conclusion:Thefull-lengthofhRANTESsequencewassubmittedtoGenBankandhadbeenreleased.OurmRANTESsequenceisfirstreportedandnotyetappearedinGenBank.ThesuccessfulcloningandexpressionofhRANTESwillprovideabasisforAIDSgenetherapyinthefuture.

简介：Adatasetof103SARS-CoVisolates(101humanpatientsand2palmcivets)wasinvestigatedondifferentaspectsofgenomepolymorphismandisolateclassification.Thenumberandthedistributionofsinglenucleotidevariations(SNVs)andinsertionsanddeletions,withrespecttoa"profile",weredeterminedanddiscussed("profile"beingasequencecontainingthemostrepresentedletterperposition).Distributionofsubstitutioncategoriespercodonpositions,aswellassynonymousandnon-synonymoussubstitutionsincodingregionsofannotatedisolates,wasdetermined,alongwithaminoacid(a.a.)propertychanges.Similaranalysiswasperformedforthespike(S)proteininalltheisolates(55ofthembeingpredictedforthefirsttime).TheratioKa/KsconfirmedthattheSgenewassubjectedtotheDarwinianselectionduringvirustransmissionfromanimalstohumans.Isolatesfromthedatasetwereclassifiedaccordingtogenomepolymorphismandgenotypes.Genomepolymorphismyieldstotwogroups,onewithasmallnumberofSNVsandanotherwithalargenumberofSNVs,withuptofoursubgroupswithrespecttoinsertionsanddeletions.Weidentifiedthreebasicnine-locusgenotypes:TTTT/TTCGG,CGCC/TTCAT,andTGCC/TTCGT,withfoursubgenotypes.Bothclassificationsproposedareinaccordancewiththenewinsightsintopossibleepidemiologicalspread,bothinspaceandtime.

简介：TodeterminewhetherthepossessionofcertainHLA-DQA1alleleswasassociatedwiththeriskofdevelopingidiopathicdilatedcardiomyopathy(IDC)andtosubstantiatetheroleofanautoimmunologicpathogenesisinIDC.TypetheallelesofHLA-DQA1bypolymerasechainreactionwithsequence-specificprimers(PCR-SSP)techniquein38patientsofidiopathicdilatedcardiomyopathy(7womenand31men),agedfrom17to56yearsoldwithdiagnosisbeingaccordingtoWorldHealthOrganizationcriteria(IDCgroup),in50patientsofend-stageheartfailureofknownetiology(18womenand32men),withagesrangingfrom34to72(HFgroup),andinthecontrolgroupconsistingofpresumably100healthysubjects(39womenand61men)fromthehealthsurvey,agedfrom30to59yearsold.ThefrequencyofHLA-DQA1*0501intheDCMpatientswassignificantlyelevatedthanthatintheHFandthecontrolgroup.MolecularanalysisoftheDQA1genepolymorphismperformedinthethreesubgroupsshowsanincreasedfrequencyofDQA1*0501amongpatientswithlessEF.TheHFgroupcarriesahighfrequencyofHLA-DQA1*0301.AnincreasedfrequencyofDQA1*0201andDQA1*0103wasfoundinthecontrolgroup.HLA-DQA1*0501isanassociatedgeneofidiopathicdilatedcardiomyopathyandthepossessionofDQA1*0301maybeindicativeoftheknownetiologicheartfailure,suggestingthatthemechanismsinvolvedinthepathogenesisofIDCandotherwiseheartfailurearedifferent.ImmunologicabnormalitiesmaybeamajorcontributortothesusceptibilityofdevelopingofIDC.

简介：Nineshorttandemrepeat(STR)markers(D3S1358,VWA,FGA,THO1,TPOX,CSFIPO,D5S818,D13S317,andD7S820)andasex-identificationmarker(Amel-ogeninlocus)wereamplifiedwithmultiplexPCRandweregenotypedwithafour-colorfluorescencemethodinsamplesfrom174unrelatedHanindividualsinNorthChina.Theallelefrequencies,genotypefrequencies,heterozygosity,prob-abilityofdiscriminationpowers,probabilityofpaternityexclusionandHardy-Weinbergequilibriumexpectationsweredetermined.TheresultsdemonstratedthatthegenotypesatalltheseSTRlociinHanpopulationconformtoHardy-Weinbergequilibriumexpectations.Thecombineddiscriminationpower(DP)was1.05×10-10withinnineSTRlocianalyzedandtheprobabilityofpaternityexclusion(EPP)was0.9998.TheresultsindicatethatthesenineSTRlociandtheAmelo-geninlocusareusefulmarkersforhumanidentification,paternityandmaternitytestingandsexdeterminationinforensicsciences.

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简介：Tamiflu(Oseltamivirphosphate)seemstobeadouble-edgedswordtosomeinAsia.Whileitiscountedonagainstinfluenzaandafearedavianinfluenzapandemic[1],thedrugisalsoassociatedwithsideeffects,rangingfromneu-ropsychiatric,gastrointestinal,tohyperthenniaandskinproblems.AccordingtoadocumentfromUSFoodandDrugAdministrationin2005[2],1184casesofsideeffectshavebeenreported.Interestingly69outofthe75pediatriccaseswerefromJapan,includingtwoteensuicides.Thesituationseemedtohavemadeagloomierturnrecently.ItwasreportedinFebruary,2007thattwoJapaneseteenagersjumpedfromapartmentbuildingsaftertakingTamifluanddied,bringingthetotalnumberofdeathsaftertakingTamiftuinJapanto54[3,4].Althoughnodirectcausalrelationshiphadbeenes-tablishedyet,theJapanHealthMinistrywarneddoctorsaboutgivingthedrugtoteenagers.Incomparison,relativelyfewcasesofseveresideeffectswerereportedfromAmericaandEuropeancountries[5].Whatiswrongwiththispicture?Ithasconcernedandbewilderedmany.Thepagesinthisissue[6]offeronefascinatinghypothesisthattriestoexplainthemysteryusinganintegratedapproachcombiningstructuralbioinformaticanalysisandenzymeassays.

简介：ChinesepopulationsinfectedwithHIV-1.Methods:GenomeDNAfromperipheralbloodmononuclearcells(PBMCs)of78HIV-1infectorswasamplifiedbypolymerasechainreaction(PCR).CCR5,CCR2bandSDF1genefragmentswereobtainedfromrestrictivefragmentlengthpolymorphism(RFLP)and/orCCR△32,CCR5m303,CCR2b-64IandSDF1-3'Aallelicgenes'mutationalfrequenciesweresequenceddirectlyfromPCRproducts.Results:NoneofCCR5△32,CCR5m303genemutationwerefoundin78subjectswithHIV-1infection.TheallelicgenemutationfrequenciesofCCR2b-64IandSDF1-3'Acorrespondingto14.9-34.0%and17.6-38.2%of95%CI,were22.79%and26.92%respectively.TheircolonydistributionconformedtotheHardy-Weinbergequilibrium.Conclusion:TheHIV-1infectionsfoundatpresentareallsusceptiblepopulationofCCR5△32andCCR5m303.ThepolymorphismandfrequenciesofCCR5△32,CCR5m303,CCR2b-64IandSDF1-3'AallelesfromChineseHIV-1infectedpopulationweredisclosedinthisstudyforthefirsttime,whichisofsignificanceforstudyingthegeneticresistancetosusceptibilitytoHIV-1infectionaswellasAIDSdiseaseprogression.

简介：包括肠的组织变形(IM)和发育异常(Dys)评估在前列腺干细胞抗原(PSCA)和先进癌症前期的胃的损害的风险的基因多型性之间的关系的目的，基于人口的研究在Linqu被进行县，在中国的胃的癌症(GC)的一个高风险的区域。包括表面的胃炎(SG)的胃的损害的流行，长期的衰退胃炎(CAG)，IM和Dys被组织病理学说的检查决定的方法。遗传型被聚合酶链反应限制决定碎片长度多型性(PCR-RFLP)技术。IM和Dys的风险上的PSCA基因变体的效果被无条件的逻辑回归计算。结果Multivariate分析表明带PSCArs2294008CT/TT遗传型的题目与IM的增加的风险被联系(OR=1.38，95%CI=1.111.71)并且Dys(OR=1.75，95%CI=1.362.26)，特别为有H.pylori感染的题目(IM：OR=1.34，95%CI=1.051.71；Dys：OR=1.82，95%CI=1.372.42)。而且，H。pylori感染和PSCArs2294008CT/TT遗传型被观察联合提高IM的风险(OR=3.32，95%CI=2.334.71)并且Dys(OR=4.58，95%CI=2.997.04)。这研究建议了那PSCArs2294008的结论可能在GC的高风险人口之中影响IM或Dys的风险。

简介：瞄准：为了由学习在IFN-gamma基因多型性，包括的IFN-gamma+874A/T单个核苷酸多型性(SNP)和CA之间的关系探索孩子的危险性到子宫内的HBV感染，重复微卫星多型性和子宫内的HBV感染。方法：在IFN-gamma+874A/T单个核苷酸多型性的TaqMan荧光聚合酶链反应在子宫内的HBV感染组被测试(组我)并且孩子们组织的正常免疫者(组II)。毛状的电气泳动在上述二个组被执行到试金IFN-gammaCA重复微卫星多型性。结果：AA的频率，在并且TT遗传型在感染组织的子宫内的HBV是67.4%，19.6%和13.0%，并且45.2%，30.1%和24.7%分别地在正常有免疫力的孩子组织。有效差量在在二个组之间的IFN-gamma+874遗传型的频率分发被发现(chi2=5.102，P=0.02389)。在子宫内的HBV感染组，AA遗传型比在正常免疫者组织是更普通的。IFN-gamma+874A等位基因的频率在子宫内的HBV感染组是77.17%，并且60.27%在正常有免疫力的孩子组织。在子宫内的HBV感染组，IFN-gamma+874A等位基因比在正常免疫者组织是更普通的。有效差量在在二个组之间的频率分发被发现(chi2=7.238，P=0.02389，或=2.228，95%CI=1.244-3.992)。(CA12)IFN-gammaCA微卫星多型性的+/(CA12)+在子宫内的HBV感染组是11.90%，26.47%在正常有免疫力的孩子组织。有效差量在在二个组之间的频率分发被发现(chi2=5.64，P=0.0176)。IFN-gammaCA重复的频率在子宫内的HBV感染组是25%，43.38%在正常有免疫力的孩子组织。IFN-gammaCA重复的频率比在正常免疫者组织是在子宫内的HBV感染组的更少。有效差量在在二个组之间的频率分发被发现(chi2=7.548，P=0.0060)。结论：在IFN-gamma+874A/TSNP和子宫内的HBV感染之间以及在IFN-gammaCA微卫星多型性和子宫内的HBV感染之间有一种关系。IFN-gamma基因多型性可能在决定个人的危险�

简介：瞄准：调查在表皮的生长之间的协会因素(EGF)+61A/G多型性和危险性到胃的癌症，通过代表性的研究。方法：聚合酶链反应resctriction碎片lenght多型性分析与胃的损害在207个病人习惯于遗传型EGF+61(有胃的腺癌的162个病人，45与萎缩或肠的组织变形)并且984控制。所有题目是白种人。结果：遗传型分发为GG是23.5%，76.5%为在控制的GA/AA组织，18.4%为GG并且68.6%为在有胃的损害的全部组的GA/AA并且17.9%为GG并且82.1%为在有胃的腺癌的组的GA/AA。没有统计上重要的协会为得胃的癌症在EGF+61变体和风险之间被发现[机会比率(或)=1.41，95%信心间隔(CI)：0.90-2.21，P=0.116]。然而，由性的个人的层化表明带A等位基因(EGF+61A/G或AA)的男性为作为与GG同型结合的男性相比得胃的癌症有增加的风险(或=1.55，95%CI：1.05-2.28，P=0.021)。结论：在摘要，我们发现是为EGF+61的A搬运人的男性为得胃的癌症有增加的风险。这结果可以被女人们分泌的建议比男人解释不太胃的酸。

简介：Bothendotheliallipasegene(LIPG)584C>T(rs2000813)polymorphismandalcoholconsumptionmodulateserumlipidlevels.Buttheirinteractionsonserumlipidprofilesarenotwellknown.ThepresentstudywasundertakentodetecttheinteractionsofLIPG584C>Tpolymorphismandalcoholconsumptiononserumlipidlevels.GenotypingoftheLIPG584C>Twasperformedin763nondrinkersand520drinkersaged15-85.Interactionsbetweenthegenotypesandalcoholconsumptionwereassessedbyusingacross-productterm.Thelevelsofserumtotalcholesterol(TC),triglyceride(TG),high-densitylipoproteincholesterol(HDL-C),apolipoprotein(Apo)AI,andtheratioofApoAItoApoBwerehigherindrinkersthaninnondrinkers(P<0.01forall).Therewasnosignificantdifferenceinthegenotypicandallelicfrequenciesbetweennondrinkersanddrinkers.ThelevelsofserumTC,HDL-CandApoAIinnondrinkersweredifferentamongthethreegenotypes(P<.05-.01).ThesubjectswithCTgenotypehadhigherserumTC,HDL-CandApoAIlevelsthanthesubjectswithCCgenotype.ThelevelsofserumHDL-CandApoAIindrinkersweredifferentamongthethreegenotypes(P<.001andP<.05;respectively).TheindividualswithTTgenotypehadhigherserumHDL-CandApoAIlevelsthantheindividualswithCCandCTgenotypes.ThelevelsofTCinnondrinkerswerecorrelatedwithLIPG584C>Tallele(P<.05),whereasthelevelsofTGandHDL-CwereassociatedwithLIPG584C>Talleles(P<.05)andgenotypes(P<.05);respectively.ThepresentstudysuggeststhatthesubjectswithTTgenotypebenefitedmorefromalcoholconsumptionthanthesubjectswithCTandTTgenotypesinincreasingserumHDL-CandApoAIlevels.

简介：Theaimofthisstudyistoinvestigatewhetherthreemononucleotidepolymorphismsatthelocus-1082,-819and-592inthepromoterregionoftheIL-10geneareassociatedwithchronicseverehepatitis.TheIL-10-592andIL-10-1082polymorphismsweregenotypedbypolymerasechainreaction-restrictionfragmentlengthpolymorphismanalysis(PCR-RFLP)whilepolymerasechainreaction-se-quencespecificprimer(PCR-SSP)assaywasusedtotesttheIL-10-819polymorphism.Thepolymor-phismsofIL-10-1082,-819and-592genesweredetectedin98patientswithchronicseverehepatitis(CSH),478patientswithchronichepatitisB(CHB),223asymptomatic(chronic)HBVcarriers(ASC)and267patientswithself-restrictedHBV.Therewassignificantdifferenceofthepolymor-phismsofIL-10-1082,IL-10-819andIL-10-592genesbetweenCSHgroupandothergroups.Thefre-quencyofAAgenotypeatIL-10genepromoter-1082locusinchronicseverehepatitispatientswashigherthanthatinasymptomaticHBVcarriers(X~2=13.314,P=0.001),andself-restrictedHBVpatients(X~2=13.545,P=0.000);thefrequencyofCCandACgenotypeatIL-10genepromoter-592locusinchronicseverehepatitispatientswashigherthanthatinchronichepatitispatients(X~2=15.970,P=0.000)(X~2=20.414,P=0.000),asymptomaticHBVcarriers(X~2=21.283,P=0.000)(X~2=28.309,P=0.000)andself-restrictedHBVpatients(X~2=17.047,P=0.000)(X~2=16.528,P=0.000);thefrequencyofTCgenotypeatIL-10genepromoter-819locusinchronicseverehepatitispatientswashigherthanthatinchronichepatitispatients(X~2=58.961,P=0.000),asymptomaticHBVcarriers(X~2=53.255,P=0.001)andself-restrictedHBVpatients(X~2=39.616,P=0.001).Sointerleukine-10genepolymorphismwasassociatedwiththechronicsevereheoatitis.

简介：在50个非粘的米饭变化(线)的Wx基因的突变而产生之遗传的变化被使用微卫星标记RM190分析[为(CT)_n简单顺序重复(SSR)]并且劈开的放大多态的顺序(帽子)标记484/W2R-ACCI[为G/T单个核苷酸多型性(SNP)]。六同型结合(CT)_n打字，也就是(CT)_(20)，(CT)_(19)，(CT)_(18)，(CT)_(17)，(CT)_(16)，(CT)_(14)，(CT)_(11)并且(CT)_(10)，和异质接合的遗传型(CT)_(11)/(CT)_(18)为RM190被检测，哪个(CT)_(11)并且(CT)_(18)是占优势的。TwohomozygousWx遗传型(G/G和T/T)和遗传型异质接合(G/T)与RM190用材料的484/W2R-ACCI.Most被检测(CT)_(11)是为484/W2R-ACCI的SNP的G/G，当为SNPwas的T/T主要出现在材料与时(CT)_(18)。测试的材料能是一起使用二个标记的组织into10范畴。结果显示直链淀粉内容的59.3%变化被归因于RM190揭示的Wx基因的多型性，当在直链淀粉的56.1%变化和24.6%内容和胶化一致性是时分别地由484/W2R-ACCI揭示了到Wxgene的多型性。与SSR和帽子标记，而且，在直链淀粉内容的72.4%变化能被解释。另外，使近交的二个标记的申请前景也被讨论。

简介：Tostudytherelationshipbetweenmyeloperoxidase(MPO)-463G/Apolymorphismsandsusceptibilitytocoronaryarterydisease(CAD)inHanpeopleofnorthAnhuiprovince.MethodsThecasegroupconsistedof79patientswhohadallangiographicallyprovenCADwereretrospectivelystudied.Usedpolymerasechainreaction-restrictionfragmentlengthpolymorphism(PCR-RFLP)methodstodecidethegenotypeofallthepatients.ResultsThefrequencyofAAhomozygotictypeinHanpeopleofAnhuiprovincewas1.4%.TheriskofCADforpersoncarryingatleastoneAallelegenotype(GAandAA)was0.37timesofGGgenotype.TheseverityofcoronaryarterystenosisinCADpatientscarryingatleastoneAallelegenotypewas0.197timesofGGgenotype(P<0.05).ConclusionsThefrequencyofAAhomozygotictypeandMPO-463G/ApolymorphisminHanpeopleofAnhuiprovinceinfluencedtheriskofCAD.AallelehadprotectivefunctioninCAD.

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简介：AbstractSingle-nucleotide polymorphisms (SNPs) are the third generation of genetic markers, having been refined from the first generation of restriction fragment length polymorphisms and the second generation of microsatellite polymorphisms. SNPs represent a focal point of current studies of Staphylococcus aureus. On one hand, this review aims to summarize common methodologies for detecting SNPs. These methods have typically included DNA genome sequencing methods and PCR-based detection methods. Alternative methods, such as mass spectrometry, denaturing high-performance liquid chromatography, SNaPshot, and SNP array have also been employed for SNP analysis. On the other hand, we enumerate a series of applications of SNP analysis in investigations of Staphylococcus aureus. SNP analysis can be applied to investigate epidemiological outbreaks and transmission of Staphylococcus aureus infections, the transmission and evolution of antimicrobial resistance genes in Staphylococcus aureus isolates, interactions of Staphylococcus aureus with other bacteria, and the links between Staphylococcus aureus in humans and livestock.

简介：AbstractObjective:The relationship between mitochondrial DNA (mtDNA) polymorphisms and abnormalities in sperm quality has been the subject of several studies, with the objective of improving the treatment of male infertility. This study, which contributes to the identification of genetic markers of sperm abnormalities, was conducted to study mtDNA mutations in the asthenozoospermia profile.Methods:This case-control study included 30 patients with asthenozoospermia and 28 with normospermia after spermogram and spermocytogram analyses. After the extraction of total DNA from the spermatozoa of 58 ejaculates from these individuals using the phenol-chloroform method, the amplification of genes of interest in mtDNA using specific primers was performed by conventional polymerase chain reaction, and sequencing was used to detect mutations.Results:Male patients with asthenozoospermia in the tertiary sector had significantly more mutant- than wild-type (P = 0.0005) MT-CO II genes. Similarly, for the same gene, males with asthenozoospermia and primary infertility had significantly more mutants than the wild-type (P = 0.001). Sequencing revealed 29 mutations that were observed only with asthenozoospermia, which could be the basis for low sperm mobility.Conclusion:This study identified several mutations in mtDNA genes that could be considered genetic markers of asthenozoospermia if confirmed in a deeper study.

简介：BackgroundStudieshaveshownthattheapo(a)gene(LPA)rs3798220polymorphismisassociatedwiththelevelsoflipidsandthecurativeeffectofstatintherapyforcarotidatherosclerosis(CAS).Whethercarriersofanapo(a)variantbenefitmorefromstatinremainsunclear.MethodsOnehundredandthreepatientswithCASwererecruitedfromApril2012toApril2013intheShundeFirstPeoplesHospitalAffiliatedtoSouthernMedicalUniversityinFoshan.Allpatientswereadministeredatorvastatin20mg/dandwerefollowed-upfor2years.withthelevelsofplasmaLp(a),totalcholesterol(TC),triglyceride(TG),highdensitylipoprotein(HDL),lowdensitylipoprotein(LDL).LPArs3798220genotypesofallpatientswereanalyzed.ResultsStatintreatmentsignificantlyreducedthelevelsofIMT,TC,TG,LDLandincreasedthelevelofHDL,butstatintreatmentdidnotreducethelevelofLp(a).AccordingtothecurativeeffectofstatintherapyinpatientswithCAS,rs3798220polymorphismhadacertaininfluenceonLDLandTClevels,butnotontheimprovementoftheIMT,TG,HDLandLp(a).ConclusionRs3798220polymorphismhasacertainimpactonthecurativeeffectsofstatin,onLDLandTClevels.