先天性肛门直肠畸形与shh基因传递连锁不平衡研究

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1、2、D7s500位点可以稳定分离出12个等位基因片段。关键词先天性肛门直肠畸形；shh基因；传递连锁不平衡检验3●英文论著摘要TransmissionTestforLinkageDisequilibriuminShhgeneandAnorectalMalformationsobjectiveAnorectalmalformations(ARMs)arecommonsurgicalproblemsaffecting1in1,500to1in5,000livebirths．Thespectrumoftheseabnormalitiesiscom

2、plicateandthecomplicationsaremultiplywhichaffectpediatrichealthseriously．Geneticepidemicalinvestigationssuggestthattherebeageneticbackground．ARMsmayrequireapredisposinggeneactinginaparticularbackgroundofpolygenesorenvironmentalinfluences．Althoughtmuchworkhasbeendone，thegen

3、eticbasisremainsunclear．Thedevelopmentofhindgutisaverycomplicatedprocess，whichinvolvesinasetofgenestoexpressatdifferentperiodsandindifferentregions．Recently，thestudiesonembryonicdevelopmentsuggestthatasailimportantsignal，shhgeneiscloselyrelatedtothedevelopmentoforganisms．S

4、hhgeneiscriticalforhindgutdevelopmentbased011experimentalmanipulationsofmiceandchickembryos．Atpresent，nopreviousreportsCallbefoundonthegeneticresearchofassociationbetweenshhgenesandhumanARMS．ThestudychosethepolymorphicmarkerD7s500thathighlinkagewithshhgene．Thepolymerasesch

5、ainreaction(PCR)productswereruntoisolatealleles．Bythetransmissionpatternofthealleles，aTDTtablewasformedandTDTtestWaSdone．ThepurposeofthisstudyistoinvestigatetheassociationbetweenARMsandshhgene．1、DNAextractionMethodsPeripheralvenousbloodsampleswerecollectedin46casesofARMsnu

6、clear4familieswithoneaffectedchild．ThePediatricSurgeryDepartmentoftheShengJingClinicalHospitalofChinaMedicalUniversitysuppliedthefamilies．EachpatientwithARMsshowedtypicalclinicalmanifestationandwasdiagnosedbyoperation．Furthermore，theARMswithseverecomplicationswasexcluded．W

7、hitebloodcellsofthesesampleswerestoredin一20"(2．DNAWasextractedusingphenol-chloroformmethod．2、PCRamplificationInformationaboutd7s500(microsatellitemarker)wasobtainedfromhttp：／／www．gdb．org．DNAWasamplifiedin259lPCRreaction．PCRwasdonewithaninitialdenaturationat94"(2for3min；fol

8、lowedby35cyclesofdenaturationat94"(2for40sec，aunealingat57*Cfor60sec，andextensionat72*(2f