Analysis of the mutations of phenylalanine hydroxylase gene in Han ethnic group of Ningxia.

MAO Xin-mei; HE Jiang; LIU Yuan; LI Hong-yan; YU Wu-zhong.

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Chinese Journal of Child Health Care ›› 2013, Vol. 21 ›› Issue (4) : 351-354.

Analysis of the mutations of phenylalanine hydroxylase gene in Han ethnic group of Ningxia.

MAO Xin-mei¹,HE Jiang²,LIU Yuan¹,LI Hong-yan¹,YU Wu-zhong².

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Abstract

Objective To understand the structure and characteristics of the mutations of phenylalanine hydroxylase (PAH) gene in Han ethnic group of Ningxia. Method All of the exons and promoters of PAH gene of 12 phenylketonuria (PKU) cases in children of Han were determined by using the method of PCR direct sequencing. Results 18 mutations were detected in 24 PAH alleles.The detection rate of mutations was 75% (18/24).There were 11 kinds of mutations,including 9 of missense mutations,1 of nonsense mutations and 1 of splice site mutations. Conclusion According to the research,the mutations of PAH gene in Han group of Ningxia show diversity,complexity,and significant ethnic characteristics.

Key words

phenylalanine hydroxylase / gene mutation / phenylketonuria / Han ethic group

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MAO Xin-mei,HE Jiang,LIU Yuan,LI Hong-yan,YU Wu-zhong.. Analysis of the mutations of phenylalanine hydroxylase gene in Han ethnic group of Ningxia.[J]. Chinese Journal of Child Health Care. 2013, 21(4): 351-354

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