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2011•The Chinese Journal of DermatovenereologyRequires access

Filaggrin Mutation in a Family with Ichthyosis Vulgaris

Sun Shu

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Abstract

Objective To detect filaggrin(FLG) mutations in a family with ichthyosis vulgaris(IV).Methods Genomic DNA was extract from the blood samples of a family with IV,and 100 normal human controls.PCR was carried out to amplify 13 FLG mutations(3321delA,441delA,1249insG,E1795X,S3296X,R501X,2282del4,R2447X,S2889X,7945delA,3702delG,Q2417X,R4307X) followed by DNA sequencing.Results FLG mutation(441delA) were detected in four cases of the family.Conclusions Our finding suggest that filaggrin mutation could be related to the IV patients.

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What this paper is about

Objective To detect filaggrin(FLG) mutations in a family with ichthyosis vulgaris(IV).Methods Genomic DNA was extract from the blood samples of a family with IV,and 100 normal human controls.PCR was carried out to amplify 13 FLG mutations(3321delA,441delA,1249insG,E1795X,S3296X,R501X,2282del4,R2447X,S2889X,7945delA,3702delG,Q2417X,R4307X) followed by DNA sequencing.Results FLG mutation(441delA) were detected in four cases of the family.Conclusions Our finding suggest that filaggrin mutation could be related to the IV patients.

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Available abstract

Objective To detect filaggrin(FLG) mutations in a family with ichthyosis vulgaris(IV).Methods Genomic DNA was extract from the blood samples of a family with IV,and 100 normal human controls.PCR was carried out to amplify 13 FLG mutations(3321delA,441delA,1249insG,E1795X,S3296X,R501X,2282del4,R2447X,S2889X,7945delA,3702delG,Q2417X,R4307X) followed by DNA sequencing.Results FLG mutation(441delA) were detected in four cases of the family.Conclusions Our finding suggest that filaggrin mutation could be related to the IV patients.

Key concepts: Ichthyosis vulgaris, Filaggrin, Ichthyosis, Mutation, Genetics, genomic DNA, Biology, Medicine

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