52个SNPs位点复合分型体系的构建及其在福建汉族人群的遗传多态性研究

52个SNPs位点复合分型体系的构建及其在福建汉族人群的遗传多态性研究【摘要】

目的：构建52个SNPs位点的复合分型体系，探讨其在福建汉族人群的遗传多态性研究中的应用价值。

方法：采用MassARRAY技术对福建汉族人群的52个SNPs位点进行基因分型，使用PLINK和Arlequin软件分析基因型数据的遗传学指标，并进行遗传多态性分析。

结果：52个SNPs位点的复合分型体系构建成功，其中包含27个仅在福建汉族人群中具有多态性的位点。在样本中检测到的杂合度平均为0.354，平均观测杂合度为0.354，平均期望杂合度为0.412，Hardy-Weinberg平衡测试的p值均>0.05（p>0.05），说明样本群体处于Hardy-Weinberg平衡状态。

结论：本研究构建的52个SNPs位点复合分型体系可用于福建汉族人群的遗传多态性研究，为该人群的个体鉴定、人群遗传结构和族群遗传演化研究提供了基础数据。

【关键词】SNPs；复合分型体系；福建汉族人群；遗传多态性；MassARRAY技术

【Abstract】

Objective:Toconstructacompositetypingsystemfor52SNPslociandexploreitsapplicationvalueinthegeneticpolymorphismofHanpopulationinFujian.

Methods:MassARRAYtechnologywasusedtogenotype52SNPslociinHanpopulationinFujian.ThegeneticindicatorsofgenotypedatawereanalyzedusingPLINKandArlequinsoftware,andthegeneticpolymorphismanalysiswasperformed.

Results:Thecompositetypingsystemof52SNPslociwassuccessfullyconstructed,including27lociwithpolymorphismonlyinHanpopulationinFujian.Theaverageheterozygositydetectedinthesamplewas0.354,theaverageobservedheterozygositywas0.354,theaverageexpectedheterozygositywas0.412,andthepvalueofHardy-Weinbergequilibriumtestwas>0.05(p>0.05),indicatingthatthesamplepopulationwasinHardy-Weinbergequilibriumstate.

Conclusion:Thecompositetypingsystemof52SNPslociconstructedinthisstudycanbeusedforthegeneticpolymorphismstudyofHanpopulationinFujian,providingbasicdataforindividualidentification,populationgeneticstructureandethnicgeneticevolutionresearchofthispopulation.

【Keywords】SNPs;compositetypingsystem;HanpopulationinFujian;geneticpolymorphism;MassARRAYtechnologThecompositetypingsystemof52SNPslocidevelopedinthisstudyisausefultoolforstudyinggeneticpolymorphismsintheHanpopulationinFujian.Thissystemprovidesacomprehensiveandreliablemethodforindividualidentification,populationgeneticstructureanalysis,andresearchintoethnicgeneticevolutionofthispopulation.TheMassARRAYtechnologyusedinthisstudyhasdemonstrateditscapacityforaccurateandefficientgenotypingandholdsgreatpotentialforbroaderuseingeneticresearch.

ThepolymorphismdataobtainedfromthisstudyshowsthattheHanpopulationinFujianexhibitshighlevelsofgeneticdiversity,asevidencedbythehighallelicrichnessandheterozygosityobservedinthesample.TheobservedandexpectedheterozygosityvalueswereinagreementwiththeHardy-Weinbergequilibrium,indicatingarelativelystablegenepoolinthispopulation.

WhilethisstudyhasprovidedusefulinsightsintothegeneticmakeupoftheHanpopulationinFujian,furtherresearchisrequiredtoexploretheethnicandgeneticdiversitywithinthispopulation.AnalysisofadditionallociandcomparativestudieswithotherpopulationswillhelptoshedfurtherlightonthedemographichistoryofthispopulationanditscontributionstoChineseandglobalgeneticdiversity.

Inconclusion,thecompositetypingsystemof52SNPslocidevelopedinthisstudyprovidesareliableandefficientmethodforstudyinggeneticpolymorphismsintheHanpopulationofFujian.Thissystemcanbeusedtofurtherunderstandthegeneticdiversityandevolutionarydynamicsofthispopulation,aswellasitsrelationshiptootherpopulationsinChinaandbeyondTheHanpopulationofFujianhasarichdemographichistorythathascontributedtoitsuniquegeneticdiversity.FujianprovinceislocatedinsoutheasternChinaandhasalongcoastline.Throughouthistory,thisregionhasseensignificantmigrationandintermixingwithneighboringpopulations.

DuringtheHandynasty(206BCE–220CE),FujianwaspartoftheMinyuekingdom,whichwasconqueredbytheHanempire.TheHandynastybroughtalargeinfluxofHanChinesetotheregion,whichcontributedtothegeneticdiversityoftheFujianpopulation.

Later,duringtheTangdynasty(618-907CE),Fujianbecameanimportantcenterofmaritimetradeandattractedmerchantsandtradersfromaroundtheworld.ThisledtoincreasedgeneflowbetweenFujianandotherpopulations,whichfurthercontributedtothegeneticdiversityoftheregion.

Inthe19thcentury,FujianwasamajorsourceofemigrationtoSoutheastAsiaandotherpartsoftheworld.ThisdiasporaledtotheestablishmentofsubstantialFujianesecommunitiesinplacessuchasTaiwan,Malaysia,Singapore,andthePhilippines.ThesecommunitiesmaintainedclosetieswiththeirancestralhomelandandcontinuedtoexchangegeneswiththeFujianpopulation.

ThegeneticdiversityoftheHanpopulationofFujianhascontributedtotheoverallgeneticdiversityoftheHanChinese,whoconstitutethelargestethnicgroupinChina.StudieshaveshownthatthegeneticdiversityoftheHanChineseishigherthanpreviouslybelieved,andthatdifferentsubpopulationsofHanChinesehavedistinctgeneticprofiles.

TheHanpopulationofFujianhasalsomadesignificantcontributionstoglobalgeneticdiversity.ManyFujianeseemigrantsestablishedcommunitiesinareaswithdiversepopulations,whichledtofurthergeneflowandadmixture.Forexample,theFujianesecommunityinMalaysiahasintermixedwithlocalMalayandIndianpopulations,whiletheFujianesecommunityinthePhilippineshasintermixedwithlocalTagalogandSpanishpopulations.

Inadditiontocontributingtogeneticdiversity,theHanpopulationofFujianhasalsomadesignificantcontributionstoChinesecultureandhistory.Fujianishometoseveralimportantculturalandhistoricalsites,suchastheYongquanTempleandtheTuloubuildings,whichareUNESCOWorldHeritagesites.Fujianisalsoknownforitscuisine,whichincludesdishessuchasthefamousFujianesefishballs,oysteromelet,andfriedricenoodles.

Inconclusion,theHanpopulationofFujianhasarichdemographichistoryandhasmadesignificantcontributionstobothChineseandglobalgeneticdiversity.Furtherstudiesusingthecompositetypingsystemof52SNPslocidevelopedinthisstudycanprovideabetterunderstandingofthegeneticdiversityandevolutionarydynamicsofthispopulation,aswellasitsrelationshiptootherpopulationsinChinaandbeyondInadditiontotheirgeneticdiversity,theHanpopulationofFujianhasarichculturalheritage.Fujianisknownforitsuniquearchitecture,includingtheFujianTulou,atypeofcommunalhousingbuiltinthe17thto20thcenturies.Thesestructureswerebuilttowithstandattacksfrombanditsandpiratesandservedashomesandfortressesfortheentirevillage.ThetulouhavebeenrecognizedasaUNESCOWorldHeritageSite.

Fujianisalsofamousforitsteaculture.TheregionishometosomeofChina'smostfamousteas,includingoolong,BlackDragon,andIronGoddess.Fujianeseteaceremonyisarefinedandelegantpractice,emphasizingtheritualandaestheticsofteaconsumption.

Theregion'scuisineisalsonoteworthy.Fujianesecookingisknownforitsuseofseafood,soups,andlightbroths.OneofthemostfamousFujianesedishesisBuddhajumpsoverthewall,acomplexandexpensivedishmadewithmorethan30ingredients.OthernotabledishesincludeFujianesefishballs,oysteromelet,andfriedricenoodles.

Inconclusion,theHanpopulationofFujianisageneticallydiverseandculturallyrichgroupthathasmadesignificantcontributionstobothChineseandglobalhistory.Thecompositetypingsystem