Polymorphisms in Tunisian patients with N-acetylgalactosamine-6-sulfate sulfatase gene deficiency Implication in Morquio A disease 英文参考文献.docVIP
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Polymorphisms in Tunisian patients with N-acetylgalactosamine-6-sulfate sulfatase gene deficiency Implication in Morquio A disease 英文参考文献
Khedhirietal.DiagnosticPathology2011,6:11
/content/6/1/11
RESEARCH
OpenAccess
PolymorphismsinTunisianpatientswith
N-acetylgalactosamine-6-sulfatesulfatasegene
deficiency:ImplicationinMorquioAdisease
SouhirKhedhiri1,2*,LatifaChkioua1,2,SalimaFerchichi1,2,AbdelhediMiled1,2,SandrineLaradi1,2
Abstract:MucopolysaccharidosistypeIVAorMorquioAsyndromeischaracterizedbythelackof
N-acetylgalactosamine-6-sulfate-sulfataseandtheaccumulationofkeratansulfateandchondroitin-6-sulfateinthe
lysosomes.Atleast,148mutationsand16polymorphismswereidentifiedintheGALNSgene.
Theaimofthisstudywasthescreeningofpolymorphismswithin7patientsrecruitedfrommanyregionsof
Tunisiainordertodeterminethehaplotypesandtheirassociationwiththemutationspreviouslyreported.
Patientsandmethods:WehaveusedthePCRsequencingtoanalysethedifferenthaplotypesandtoidentifythe
polymorphismswithin7affectedMPSIVApatients.
Results:NineGALNSpolymorphismsweredetectedinthe7studiedpatients.Fiveofthesepolymorphismsare
withintheGALNSgeneexons.Sixpolymorphismshavebeenpreviouslydescribedandusedforlinkageanalysisin
MPSIVApatientsanddeterminationofhaplotypes.Wehaveidentifiedtwonovelheterozygouspolymorphismsin
intron13andintron3
Conclusion:Polymorphismsmaybeusefulforcarrierdetectionandprenataldiagnosisininformativefamilies
whosespecificmutationshavenotbeenidentified.Thedeterminationofhaplotypescanalsodeterminetheorigin
ofsomemutationsinapopulation.
Background
InvestigationsoftheallelicheterogeneityinMPSIVA
Mucopolysaccharidosis IVA (Morquio A syndrome; have been facilitated by the isolation and characteriza-
MPSIVA)isanautosomalrecessivediseasethatisclas- tion of the full length cDNA encoding the human
sified in the group of mucopolysaccharide storage dis- GALNSproteinandthegenomicGALNSgene[2].The
eases. It results from a deficiency of the lysosomal GALNS gene spans 35 kbin length, contains 14 exons
enzyme N-acetylgalactosamine-6-sulfate sulfatase and13introns,andwasmappedtotheregion16q24,by
(GALNS; E.C.) [1], which hydr
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