| 第2代测序技术在甲基丙二酸尿症以及苯丙酮尿症诊断中的应用 |
| 投稿时间：2014-07-14 修订日期：2014-09-22 点此下载全文 |
| 引用本文：高志杰,姜茜,陈倩,许克铭.第2代测序技术在甲基丙二酸尿症以及苯丙酮尿症诊断中的应用[J].医学研究杂志,2015,44(3):111-114,168 |
| DOI：
10.3969/j.issn.1673-548X.2015.03.031 |
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| 中文摘要:目的 探讨第2代测序技术在儿童常见遗传代谢病诊断中的价值, 提出遗传代谢病诊断的新策略。方法 采用目标区序列捕获及第2代高通量测序技术对临床诊断的3例甲基丙二酸尿症、2例苯丙酮尿症患儿进行检测, 同时采用Sanger测序技术对患者突变进行验证。结果 3例甲基丙二酸尿症患儿检测发现均为MMACHC基因突变, 其中1例为c.80A > G(P.Q27R)和c.609 G > A (P.W203X)复合杂合突变, 1例为c.394C > T(P.R132X)和c.567dupT(P.I190fs)复合杂合突变, 另1例为c.80A > G(P.Q27R)和c.271dupA(P.R91fs)复合杂合突变。2例苯丙酮尿症患儿检测发现PAH基因突变, 其中1例为c.158G > A(P.R53H)和c.838G > A(P.E280K)复合杂合突变, 另1例为c.158G > A(P.R53H)和c.1238 G > C (P.R413P)复合杂合突变, 上述突变均为已知致病突变位点杂合突变;Sanger测序结果与第2代测序结果相符合。结论 本研究提示第2代测序技术具有低成本、高通量、高敏感度以及可灵活设计的特点, 可作为儿科临床常见遗传代谢病基因诊断的首选工具。 |
| 中文关键词:遗传代谢病 儿童 基因诊断 第2代测序 |
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| Application of Next-generation Sequencing in Methylmalonic Aciduria and PKU Diagnosis |
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| Abstract:Objective To study the value of second generation sequencing technology in the common inherited metabolic diseases diagnosis in pediatrics, and put forward a new strategy of inherited metabolic diseases diagnosis. Methods Next-generation sequencing was used to detect gene mutation in three patients with methylmalonic aciduria and two patients with PKU.Sanger sequencing were applied to confirm the results. Results Compound heterozygous mutation in MMACHC gene was detected in three patients with methylmalonic aciduria.One patient had c.80A > G(P.Q27R) and c.609 G > A (P.W203X). One patient had c.394C > T(P.R132X) and c.567dupT(P.I190fs). One patient had c.80A > G(P.Q27R) and c.271dupA(P.R91fs). Compound heterozygous mutation in PAH gene was detected in two patients with PKU. One patient had c.158G > A(P.R53H) and c.838G > A(P.E280K). One patient had c.158G > A (P.R53H) and c.1238 G > C (P.R413P), all of which have been reported before. Conclusion Next-generation sequencing technology is a cost-effective, high throughput and quick diagnostic tool for screening inherited metabolic diseases. We would recommend next-generation sequencing technology for gene diagnose on common inherited metabolic diseases in pediatrics. |
| keywords:Inherited metabolic diseases Child Genetic diagnose Next-generation sequencing |
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