OMIMResultMyNCBI[SignIn][Register]Entrez20All DatabasesPubMedNucleotideProteinGenomeStructurePMCTaxonomyOMIM SearchPubMedProteinNucleotideCoreNucleotideGSSESTStructureGenomeBooksCancerChromosomesConservedDomainsdbGaP3DDomainsGeneGenomeProjectGENSATGEOProfilesGEODataSetsHomoloGeneJournalsMeSHNCBIWebSiteNLMCatalogOMIAOMIMPMCPopSetProbeProteinClustersPubChemBioAssayPubChemCompoundPubChemSubstanceSNP SearchPubMedProteinNucleotideCoreNucleotideGSSESTStructureGenomeBooksCancerChromosomesConservedDomainsdbGaP3DDomainsGeneGenomeProjectGENSATGEOProfilesGEODataSetsHomoloGeneJournalsMeSHNCBIWebSiteNLMCatalogOMIAOMIMPMCPopSetProbeProteinClustersPubChemBioAssayPubChemCompoundPubChemSubstanceSNPTaxonomyToolKitUniGeneUniSTSforGoClearLimitsPreview/IndexHistoryClipboardDetails DisplayTitlesDetailedClinicalSynopsisAllelicVariantsASN1XMLLinkOutRelatedEntriesBookLinksGeneLinksGenomeLinksGEOProfileLinksHomoloGeneLinksCoreNucleotideLinksESTLinksGSSLinksNucleotideLinksOMIALinksPubChemBioAssayLinksPMCLinksProteinLinksPubMed(calculated)LinksPubMed(cited)LinksSNPLinksGeneGenotypeLinksStructureLinksUniGeneLinksUniSTSLinksShow5102050100200500SendtoTextFilePrinterClipboard*104650LinksAMYLASEPANCREATICAAMY2AGenemaplocus1p21TEXTPolymorphismwasdeterminedbyagargelelectrophoresisDataongenefrequenciesofallelicvariantsweretabulatedbyRoychoudhuryandNei(1988)Kamarytetal(1971)assignedthelocustochromosome1bystudyoflinkagewiththe'uncoiler'chromosomalvariant(1qh+)usedbyDonahueetal(1968)inassigningtheDuffybloodgrouplocus(110700)tochromosome1Hilletal(1972)demonstratedprobablelinkagebetweentheAMY2locusandtheDuffybloodgrouplocusInthemouseHjorthetal(1980)concludedthatatleast4structuralgenelocicodeforpancreaticamylasewhereasonlyasinglegenedifferentfromanyofthepancreaticgenescodesforsalivaryamylaseThesegenesareonmousechromosome3Youngetal(1981)showedthatinthemousetwodifferenttissuespecificmRNAsarecodedbyasinglegeneUsingahumangenomicDNAsegmentthathybridizeswithratpancreaticamylasecDNAtostudyhumanmousesomaticcellhybridsTricoliandShows(1984)assignedtheamylasegene(s)toregion1p22p21Thehumancellstudiedinthehybridhadatranslocationinvolvingchromosome1RFLPsattheamylaselociweredescribedGrootetal(1988)suggestedthatthereare2pancreaticamylasegenesinthehumangenomedesignatedAMY2AandAMY2B(104660)Pronketal(1982)presentedevidencetheyinterpretedasindicatingduplicationofthesalivaryamylaselocusalsoInafullexpositionofthestructureofthepartofthegenomecontainingthealphaamylasemultigenefamilyGrootetal(1989)described2haplotypesconsistingofdifferentnumbersofsalivaryamylasegenestheshorthaplotypecontains2pancreaticgenestermedbythemAMY2AandAMY2Band1salivaryamylasegenetermedbythemAMY1Carrangedintheorder2B2A1Candencompassingatotallengthofapproximately100kbThelonghaplotypespansabout300kbandcontains6additionalgenesarrangedin2repeatseachofwhichconsistsof2salivaryamylasegenesdesignatedAMY1A(104700)andAMY1Bandapseudogenelackingthefirst3exons(AMYP1)Theorderoftheamylasegeneswithintherepeatis1A1BP1AllgenesareinaheadtotailorientationexceptAMY1BwhichhasareverseorientationwithrespecttotheothergenesAgeneraldesignation2B2A(1A1BP)n1Ccandescribethesehaplotypesnbeing0and2fortheshortandlonghaplotypesrespectivelyGrootetal(1989)presentedevidencefortheexistenceofadditionalhaplotypesGrootetal(1990)proposedthatthealphaamylasemultigenefamilyevolvedthroughunequalhomologousinterandintrachromosomalcrossoversGrootetal(1991)reportedobservationsonpolymorphicDNApatternsandinterpretedtheminlightofthishypothesisBrocketal(1988)Jorgensenetal(1984)andSjolundetal(1991)reportedfamilialselectivedeficiencyofpancreaticamylaseThepatientsofSjolundetal(1991)wereunrelatedwomenaged49and38yearsInthesecondwomanreducedlevelsofserumamylasewerefoundinasisterandheronlysonThesisterhadadaughterwith'slightlyreducedpancreaticamylaseactivityinserum'InyoungchildrenphysiologicallylowlevelsofpancreaticamylaseactivityareobservedTheadultlevelofactivityintheduodenaljuiceisreachedattheageof18monthsandinserumataboutage7yearsalthoughdelayedmaturationhasbeendescribedLargescalecopynumbervariations(LCVs)involvegainsorlossesofseveralkilobasestohundredsofkilobasesofgenomicDNAamongphenotypicallynormalindividualsToinvestigateLCVsinthehumangenomeIafrateetal(2004)appliedarraybasedcomparativegenomichybridization(arrayCGH)tothegenomesof55unrelatedindividualsThemostcommonLCV(identifiedin491%oftheindividualsstudied)encompassedtheAMY1AandAMY2Alocusat1p133(Grootetal1991)SEEALSOCarfagnaetal(1976)Merrittetal(1973)Merrittetal(1973)Merrittetal(1972)RosenblumandMerritt(1978)Spenceetal(1977)REFERENCES1BrockAMortensenPBMortensenBBRogeHRFamilialoccurrenceofdiminishedpancreaticamylaseinseruma'silent'Amy2allelicvariant?ClinChem34151615171988PubMedID32605462CarfagnaMGaudioLPatricoloMRSpadacentaFPancreaticamylasepolymorphismanotherexampleofadistinctivegenefrequencyamongSardiniansHumHered2659651976PubMedID9556373DonahueRPBiasWBRenwickJHMcKusickVAProbableassignmentoftheDuffybloodgrouplocustochromosome1inmanProcNatAcadSci619499551968PubMedID52465594GrootPCBleekerMJPronkJCArwertFMagerWHPlantaRJErikssonAWFrantsRRHumanpancreaticamylaseisencodedbytwodifferentgenesNucleicAcidsRes164724only1988PubMedID32600285GrootPCBleekerMJPronkJCArwertFMagerWHPlantaRJErikssonAWFrantsRRThehumanalphaamylasemultigenefamilyconsistsofhaplotypeswithvariablenumbersofgenesGenomics529421989PubMedID27886086GrootPCMagerWHFrantsRRInterpretationofpolymorphicDNApatternsinthehumanalphaamylasemultigenefamilyGenomics107797851991PubMedID16797527GrootPCMagerWHHenriquezNVPronkJCArwertFPlantaRJErikssonAWFrantsRREvolutionofthehumanalphaamylasemultigenefamilythroughunequalhomologousandinterandintrachromosomalcrossoversGenomics8971051990PubMedID20816048HillCJRoweSILovrienEWProbablegeneticlinkagebetweenhumanserumamylase(AMY2)andDuffybloodgroupsNature2351621631972PubMedID45512259HjorthJPLusisAJNielsenJTMultiplestructuralgenesformouseamylaseBiochemGenet182813021980PubMedID616084910IafrateAJFeukLRiveraMNListewnikMLDonahoePKQiYSchererSWLeeCDetectionoflargescalevariationinthehumangenomeNatureGenet369499512004PubMedID1528678911JorgensenHRKristensenBMortensenPBFamilialincidenceofreducedactivityofpancreascorrelatedwithamylaseisoenzymeintheserumUgeskrLaeger1466576591984PubMedID620098312KamarytJAdamekRVrbaMPossiblelinkagebetweenuncoilerchromosomeUn1andamylasepolymorphismAmy2lociHumangenetik112132201971PubMedID510165913MerrittADLovrienEWRivasMLConneallyPMHumanamylaselocigeneticlinkagewiththeDuffybloodgrouplocusandassignmenttolinkagegroupIAmJHumGenet255235381973PubMedID474184714MerrittADRivasMLBixlerDNewellRSalivaryandpancreaticamylaseelectrophoreticcharacterizationsandgeneticstudiesAmJHumGenet255105221973PubMedID474184615MerrittADRivasMLWardJCEvidenceforcloselinkageofhumanamylaselociNatureNB239243244197216PronkJCFrantsRRJansenWErikssonAWToninoGJMEvidenceforduplicationofthehumansalivaryamylasegeneHumGenet6032351982PubMedID617652817RosenblumBBMerrittADHumanpancreaticalphaamylasephenotypiccodominanceandnewelectrophoreticvariantsAmJHumGenet304344411978PubMedID30972518RoychoudhuryAKNeiMHumanPolymorphicGenesWorldDistributionNewYorkOxfordUnivPress(pub)198819SjolundKHaggmarkAIhseISkudeGKarnstromUWikanderMSelectivedeficiencyofpancreaticamylaseGut325465481991PubMedID171020020SpenceMASparkesRSHeckenlivelyJRPearlmanJTZedalisDSparkesMCristMTidemanSProbablegeneticlinkagebetweenautosomaldominantretinitispigmentosa(RP)andamylase(AMY2)evidenceofanRPlocusonchromosome1AmJHumGenet293974041977PubMedID87917021TricoliJVShowsTBRegionalassignmentofhumanamylase(AMY)top22p21ofchromosome1SomatCellMolecGenet102052101984PubMedID660879522YoungRAHagenbuchleOSchiblerUAsinglemousealphaamylasegenespecifiestwodifferenttissuespecificmRNAsCell234514581981PubMedID6162570CONTRIBUTORSVictorAMcKusickupdated9/30/2004CREATIONDATEVictorAMcKusick6/4/1986EDITHISTORYalopez9/30/2004alopez9/30/2004terry4/30/1999pfoster5/12/1994mimadm4/26/1994warfield3/23/1994supermim3/16/1992carol2/18/1992carol7/24/1991Copyright©19662007JohnsHopkinsUniversityDisclaimerWritetotheHelpDeskPrivacyPolicyNCBINLMNIHÂ