Atypical Haemolytic Uraemic Syndrome Associated with a Hybrid Complement Gene 英文参考文献.docVIP

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Atypical Haemolytic Uraemic Syndrome Associated with a Hybrid Complement Gene 英文参考文献.doc

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Atypical Haemolytic Uraemic Syndrome Associated with a Hybrid Complement Gene 英文参考文献

o PL SMEDICINE AtypicalHaemolyticUraemicSyndrome AssociatedwithaHybridComplementGene Julian P.Venables1[,Lisa Strain2[,Danny Routledge2[,David Bourn2,Helen M. Powell2,Paul Warwicker3, Martha L.Diaz-Torres1,Anne Sampson4,Paul Mead5,Michelle Webb6,Yves Pirson7,Michael S.Jackson1, Anne Hughes8,Katrina M.Wood9,Judith A.Goodship1,Timothy H.J.Goodship1* 1InstituteofHumanGenetics,UniversityofNewcastleuponTyne,NewcastleuponTyne,UnitedKingdom,2NorthernMolecularGeneticsServiceLaboratory,Newcastle upon Tyne Hospitals National Health Service Trust, Newcastle upon Tyne, United Kingdom, 3 Renal Unit, East and North Hertfordshire National Health Service Trust, Stevenage,UnitedKingdom,4DepartmentofImmunology,NewcastleuponTyneHospitalsNationalHealthServiceTrust,NewcastleuponTyne,UnitedKingdom,5Renal Unit,NorthCumbriaAcuteHospitalsNationalHealthServiceTrust,Carlisle,UnitedKingdom,6RenalUnit,EastKentHospitalsNationalHealthServiceTrust,Canterbury, United Kingdom, 7 Service de Nephrologie, Cliniques Universitaires Saint-Luc, Brussels, Belgium, 8 Department of Medical Genetics, Queen’s University, Belfast, United Kingdom,9DepartmentofHistopathology,NewcastleuponTyneHospitalsNationalHealthServiceTrust,NewcastleuponTyne,UnitedKingdom Funding:Thisworkwassupported bygrantsfromtheNorthern ABSTRACT CountiesKidneyResearchFund,the FoundationforChildrenwith Background AtypicalHUS,andtheRobinDavies Trust.Thefundershadnorolein studydesign,datacollectionand analysis,decisiontopublish,or preparationofthemanuscript. Sequence analysis of the regulators of complement activation (RCA) cluster of genes at chromosome position 1q32 shows evidence of several large genomic duplications. These duplicationshaveresultedinahighdegreeofsequenceidentitybetweenthegeneforfactorH (CFH) and the genes for the five factor H-related proteins (CFHL1–5; aliases CFHR1–5). CFH mutations have been described in association with atypical haemolytic uraemic syndrome (aHUS). The majority of the mutations are missense cha