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DETECTION OF EXON 11 MUTATION IN PAH GENE OF CLASSICAL PHENYLKETONURIA IN INNER MONGOLIA

Junli Zhang

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Abstract

Objective:To study the mutations of the phenylalanine hydroxylase(PAH)gene and enhance the gene diagnosis of classical phenylketonuria(PKU) in Inner Mongolia.Methods: Exon 11 of PAH gene was analyzed in 22 patients affected with classical PKU from Inner Mongolia by using PCR-SSCP-silver stain method and DNA direct sequencing.Results: One nonsense mutation Y356X(TAC→ TAA)was identified by positive and negative contrast.The mutation frequency was 13.6%.Conclusion: Mutation frequency in exon 11 of PAH gene of PKU in the people of Inner Mongolia was higher than that of other Northern Chinese and higher than that of Yunnan Chinese also.This finding provided scientific evidence for gene diagnosis and treatment of PKU in Inner Mongolia.

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What this paper is about

Objective:To study the mutations of the phenylalanine hydroxylase(PAH)gene and enhance the gene diagnosis of classical phenylketonuria(PKU) in Inner Mongolia.Methods: Exon 11 of PAH gene was analyzed in 22 patients affected with classical PKU from Inner Mongolia by using PCR-SSCP-silver stain method and DNA direct sequencing.Results: One nonsense mutation Y356X(TAC→ TAA)was identified by positive and negative contrast.The mutation frequency was 13.6%.Conclusion: Mutation frequency in exon 11 of PAH gene of PKU in the people of Inner Mongolia was higher than that of other Northern Chinese and higher than that of Yunnan Chinese also.This finding provided scientific evidence for gene diagnosis and treatment of PKU in Inner Mongolia.

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Available abstract

Objective:To study the mutations of the phenylalanine hydroxylase(PAH)gene and enhance the gene diagnosis of classical phenylketonuria(PKU) in Inner Mongolia.Methods: Exon 11 of PAH gene was analyzed in 22 patients affected with classical PKU from Inner Mongolia by using PCR-SSCP-silver stain method and DNA direct sequencing.Results: One nonsense mutation Y356X(TAC→ TAA)was identified by positive and negative contrast.The mutation frequency was 13.6%.Conclusion: Mutation frequency in exon 11 of PAH gene of PKU in the people of Inner Mongolia was higher than that of other Northern Chinese and higher than that of Yunnan Chinese also.This finding provided scientific evidence for gene diagnosis and treatment of PKU in Inner Mongolia.

Key concepts: Inner mongolia, Phenylalanine hydroxylase, Exon, Nonsense mutation, Mutation, Genetics, Gene, Gene mutation

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DETECTION OF EXON 11 MUTATION IN PAH GENE OF CLASSICAL PHENYLKETONURIA IN INNER MONGOLIA — Research Paper | ScholarLens