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##王如文¹11:(hereditaryhaemochromatosis)(),1996Feder(HFE),HFE66p2113D6S105,HLAHLA-H343,AA2A3;HFEHFE,MHC,(TfR)HFETfR218!,HFETfRTfRTfR-HFE,HFE-TfR(Bennett2000)(Fe-Tf)HFEFe-TfTfR,Fe-TfHFETfRHFETfRFe-TfTfRHFE()Fe-TfTfRTfR:Fe-Tf,(Lebron1999),2~4,3~5mg,25~50g,6~12,:(1)C282Y,282(Cys282TyrC282Y)HFEB2-,HFE(IRPs),SFTfR,HFE(la-bileironpool)(Riedel1999)HFE,,,(2)H63D,63(#186#200164¹100035His63AspH63D)HFEpH(pH)(Fe-Tf)HFE,H63D(3)S65C,65(S65C)420PCR-SSCP13S65C,:H63D1418%C282Y612%S65C115%;(H63DC282Y),S65C(Simonsen1999),C282Y\45%230345%248,S65C:117%212%(P=0165),H63D,:2418%417%(P=010009)S65C,S65C(Arya1999)(4):20,,(Peuschel1997),204C282YC282Y/H63DH63D,HFE2345245,HFE(Barton1999)211996,,,C282YH63D,,,,,,,0132%HLA,,HFE,H63D2168%;HLA,(Cullen1998),C282YH63D,,,013%~015%,H63DC282Y,C282YC282YH63D,C282Y,H63D,(1995)4,3,1,,X,-,DNA,#187#200164HFE,HFE(OR),C282Y/C282Y:210,C282Y/H63D:24,H63D/H63D:9,C282Y/):5,H63D/):2C282YC282Y40,H63D415(Lester1999)31HFE,,,HFE-DNA,,HFE,,DNA,(1)C282Y,Hgb,Hct,MCV,MCH,MCHC,C282YTS\75%,MCV(),MCVMCHMCHC(2)C282Y(unboundiron-bindingcapacityUIBC),(TS)UIBC:[28Lmol/L(93%),TS:\46%(83%);UIBCTSHFEDNA(Adams2000)(3)(unsaturatedironbindingcapacity,UIBC)30Lmol/L,(TS)40%,TS,UIBC(Hickman2000)(4)C282Y,SI,TSHgbC282Y/H63D,:SI,TS,Hgb,MCV,SF(Rossi2000)41HFE1996HFE2,,(1)HFE11520,40%;42%,GnRH,52%HFE2(Sampson2000)2,SI,TS,SF2;(Dubois2000)(2)HFE,,SI,TS,SF,(non-transferrin-boundiron,NTBI),NTBINTBI,NTBI-(deValk2000)#188#200164(3)HFE:SI,TS();ALT,ASTGGTHCV(Martine2000)HCV209,88(4211%);;(P=0104),(P=01004)(Hezode1999)HCV30%,HCV,HCVRNAH63DC282Y,,HCV-3HCVRNAHCVHFE(Negro2000),,C282YH63D0104201185,,C282YH63DHFE(Racchi1999)1.AdamsPC,ChakrabartiS.Genotypic/phenotypiccorrelationsingenetichaemochromatosis:evolutionofdiagnosticcriteria.Gastroenterology,1998,114(2):319~323.2.AryaN,ChakrabratiS,HegeleRA,etal.HFES65Cvariantisnotassociatedwithincreasedtransferrinsaturationinvolun-taryblooddonors.Blood,CellsMolDis.1999,25(5-6):354~357.3.BennettMJ,LebronJA,BjorkmanPJ.CrystalstructureofthehereditaryhaemochromatosisproteinHFEcomplexedwithtrans-ferrinreceptor.Nature.2000.4.CullenLM,GaoX,EastealS,etal.Thehemochromatosis845GyAand187CyGmutations:prevalenceinnon-Cau-casianpopulations.AmJHumGenet.1998,62(6):1403~1407.5.LebronJA,WestAPJr,BjorkmanPJ.ThehaemochromatosisproteinHFEcompeteswithtransferrinforbindingtothetrans-ferrinreceptor.JMolBiol.1999,294:239~45.6.,,,..,1995,3(1):18~21.姚慧臣综述王宁遂徐酉华审校¹(ALL),[1]ALL,1.TEL-AML1t(12;21)(p13;q22)12TEL21AML1,#189#200164¹400014