ecently,anautosomaldominantgingivalfibromatosislocuswasmaedtoan11cmintervalboundedbyd2s1788andd2s2298.inordertorefinethepreviouslymaedregionandfacilitytheidentificationoftheunderlyinggenesreoibleforthedisorder,wecollectedfivehereditarygingivalfibromatosisfamilieswhichweretypedbyuseofpolymorphicmarkerson2p21.inthefourfamilies,thegingivalfibronmatosislocuswaslocatedtoanaroximately8.7cmregionon2p21whichoverlaby2.8mbwithpreviouslymaedinterval.
high-resolutionradiationhybridmaingshowedthattwoimporta
ntgenes,calm2andncx1whichpreviouslymaedtohgfcandidateintervalwereoutsideofthehgfcriticalregion.cpanalysisandsequencingofcodingregionofcandidategenescyp1b1,prkr,prkcn,pez2andtheotherrelevantgene(ncx-like)whichwaspredictedbygecan,genfinderandgrailfailedtorevealanydisease-ecificmutatioinaffectedindividualsandnormalcontrols,suggestingthatmutatiointhesegenesmaynotplayacausativeroleinthepathogenesisofdisorder.
allaffectedindividualsinthefifthfamily(pedigree)begantheirgingivalenlargementwithinoneyearold.otherhgffamiliestookoetaftertwoyearsold.sowecalledthepedigreeas“early-oettype”hgf.thepedigreehgflocusdidnotcosegregatewiththeatrmarkerson2p21.usingagenomewidesearchstrategyandlinkageanalysis,weidentifiedanewgeneticlinkage(zmax=4.81θ=0.00)atapositionof111.97cmbetweend5s1462andd5s1721forthehgfphenotypetopolymorphicmarkersinthegeneticregionofchromosome5q13-q22.haplotyperecotructionestablishedthecentromericboundarytod5s1491,andthetelomericboundarytod5s1453aumingcompletepenetrancean