| 新疆维吾尔族经典苯丙酮尿症患儿苯丙氨酸羟化酶基因第10、11、12外显子突变研究 |
| 投稿时间：2024-11-18 修订日期：2024-12-12 点此下载全文 |
| 引用本文：王慧琴,李龙,贺金峰,热孜宛古丽·约麦尔,张晓玲,吴卫东.新疆维吾尔族经典苯丙酮尿症患儿苯丙氨酸羟化酶基因第10、11、12外显子突变研究[J].医学研究杂志,2025,54(5):34-39 |
| DOI：
10.11969/j.issn.1673-548X.2025.05.008 |
| 摘要点击次数: 3 |
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| 基金项目:国家自然科学基金资助项目(82260318)；新疆维吾尔自治区人民医院精准医学研究中心科研基金资助项目(20220308)；新疆维吾尔自治区天山青年计划优秀青年科技人才项目(2018Q051) |
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| 中文摘要:目的 了解新疆南疆地区近10年的苯丙酮尿症(phenylketonuria,PKU)患儿检出率,并分析经典PKU患儿苯丙氨酸羟化酶(phenylalanine hydroxylase,PAH)基因在新疆南疆地区的突变情况,从而为临床治疗提供有效参考。方法 新疆南疆地区活产婴儿PKU筛查采用化学荧光法检测干滤纸血片中苯丙氨酸(phenylalanine,Phe)浓度。采集新疆南疆地区29例确诊的维吾尔族经典PKU患儿足跟血或静脉血,应用聚合酶链式反应产物直接测序的方法对维吾尔族PKU患儿PAH基因10、11、12外显子及与内含子衔接区进行序列分析,以确定其突变位点。结果 此次29例患儿共检测到5种基因突变类型,13个突变位点,突变检出率为44.83%(13/29)。5种突变分为2个第10外显子与内含子衔接区IVS10-1(c.1066-11G>A)突变位点、4个第11外显子p.L385L(c.1155G>C)突变位点、4个第12外显子p.R413P(c.1238G>C)突变位点、1个第12外显子p.T418P(c.1252A>C)突变位点、2个第12外显子IVS12+1(c.1315+1G>A)突变位点；患儿中有2例同时检出2个位点突变。结论回顾性分析了新疆南疆地区近10年的PKU检出率。明确了新疆维吾尔族苯丙酮尿症患儿PAH基因第10、11、12外显子及与内含子衔接区的突变种类和特征,为深入研究维吾尔族家系苯丙酮尿症奠定基础。 |
| 中文关键词:苯丙氨酸羟化酶 苯丙酮尿症 基因突变 |
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| Mutation of Exons 10,11 and 12 of Phenylalanine Hydroxylase Gene in Uygur Children with Classic Phenylketonuria in Xinjiang |
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| Abstract:Objective To understand the detection rate of children with phenylketonuria (PKU) in southern Xinjiang in recent 10 years, and analyze the mutation of phenylalanine hydroxylase (PAH) gene in children with classical PKU in southern Xinjiang, so as to provide effective reference for clinical treatment. Methods The concentration of phenylalanine (PHE) in dried filter paper blood was detected by chemical fluorescence method for PKU screening of live births in southern Xinjiang. The heel blood or venous blood of 29 Uygur PKU children diagnosed in southern Xinjiang were collected. The exons 10,11, 12 of PAH gene and the intron junction region of Uygur PKU children were sequenced by polymerase chain reaction (PCR) product direct sequencing method to determine the mutation site. Results A total of 5gene mutation types and 13mutation sites were detected in 58 chromosomes, and the mutation detection rate was 44.83% (13 / 29). The five mutations were divided into two mutation sites of ivs10-1 (c.1066-11g>a) in the junction region between exon 10 and intron, and four P L385l (c.1155g>c) mutation site, 4 exon 12 P R413p (c.1238g>c) mutation site, 1 exon 12 P T418p (c.1252a>c) mutation site, two ivs12+1 (c.1315+1g>a) mutation sites in exon 12; Two site mutations were detected in 2 of 29 children. Conclusion The detection rate of PKU in southern Xinjiang in recent 10 years was retrospectively analyzed. The mutation types and characteristics of exons 10,11 and 12 of PAH gene and the intron junction region of PAH gene in Xinjiang Uygur children with phenylketonuria were clarified, which laid the foundation for further study of phenylketonuria in Uygur families. |
| keywords:Phenylalanine hydroxylase Phenylketonuria Mutation |
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