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

journal1 ›› 2013, Vol. 21 ›› Issue (4): 351-354.

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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.

1 Ningxia Maternal and Child Health Care Hospital,Yinchuan,Ningxia 750004,China;
2 Institute of Clinical Medicine,Urumqi General Hospital of Lanzhou Military Region,Urumqi,Xinjiang 830000,China

Received:2012-07-23 Online:2013-04-06 Published:2013-04-06

宁夏汉族苯丙氨酸羟化酶基因突变分析

毛新梅¹,何江²,刘媛¹,李宏艳¹,余伍忠²

1 宁夏妇幼保健院,宁夏银川 750004;
2 兰州军区乌鲁木齐总医院临床医学研究所,新疆乌鲁木齐 830000

通讯作者: 余伍忠,E-mail:wuzhong.yu@yahoo.com.cn
作者简介:毛新梅(1970-),女,宁夏人,副主任医师,本科学历,长期从事儿童保健工作,目前主要从事新生儿疾病筛查工作。

Abstract

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

摘要： 目的了解宁夏汉族苯丙氨酸羟化酶(phenylalanine hydroxylase,PAH)基因的突变构成及特点。方法采用PCR产物直接测序的方法,测定12例汉族苯丙酮尿症(phenylketonuria,PKU)患儿PAH基因全部外显子及其启动子区域序列。结果在24个PAH等位基因中共检出18个突变基因,突变检出率为75%(18/24),这些突变包含11种类型,其中错义突变9种、无义突变1种、剪切位点突变1种。结论研究结果显示宁夏地区汉族PAH基因突变表现出多样性、复杂性,呈现明显的地域特色。

关键词: 苯丙氨酸羟化酶, 基因突变, 苯丙酮尿症, 汉族

CLC Number:

R722

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]. journal1, 2013, 21(4): 351-354.

毛新梅,何江,刘媛,李宏艳,余伍忠. 宁夏汉族苯丙氨酸羟化酶基因突变分析[J]. 中国儿童保健杂志, 2013, 21(4): 351-354.

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

宁夏汉族苯丙氨酸羟化酶基因突变分析

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