10例原发性肉碱缺乏症新生儿的基因诊断

发布时间：2018-07-09 23:08

本文选题：原发性肉碱缺乏症 + 串联质谱　；参考：《中国当代儿科杂志》2017年11期

【摘要】：目的对新生儿原发性肉碱缺乏症(PCD)基因突变谱进行分析,为PCD早期诊断和治疗以及遗传咨询和产前诊断提供理论依据。方法对进行新生儿串联质谱筛查的34 167份滤纸干血片进行血酰基肉碱谱分析,对其中游离肉碱(C0)低于10μmol/L的新生儿及父母行SLC22A5基因测序。结果酰基肉碱谱筛查C0低于10μmol/L的新生儿10例,患儿母亲游离肉碱均未见降低,10例患儿的SLC22A5基因测序检测到10种20个突变位点,其中c.976CT、c.919del G、c.517del C、c.338GA未见报道,生物信息学分析提示高致病风险。结论串联质谱技术结合SLC22A5基因测序有助于PCD早期诊断,新突变的发现丰富了SLC22A5基因突变谱。
[Abstract]:Objective to analyze the mutation spectrum of primary carnitine deficiency (PCD) gene in neonates, and to provide theoretical basis for early diagnosis and treatment of PCD, genetic counseling and prenatal diagnosis. Methods the blood acyl carnitine spectra of 34 167 filter paper dried blood samples screened by tandem mass spectrometry were analyzed. SLC22A5 gene was sequenced in the neonates and their parents whose free carnitine (C0) was less than 10 渭 mol / L. Results among the 10 newborns whose C0 was less than 10 渭 mol / L, 10 mutation sites were detected by SLC22A5 gene sequencing in 10 cases of children with no reduction of free carnitine in their mothers, among them, no report was made on the expression of SLC22A5 gene in 10 neonates with C0 < 10 渭 mol / L, among them, c. 976CTA, c.919del GN, c. 517del Cor, c. 338GA. Bioinformatics analysis suggested a high risk of pathogenicity. Conclusion tandem mass spectrometry combined with sequencing of SLC22A5 gene is helpful for early diagnosis of PCD. The discovery of new mutation enriches the mutation spectrum of SLC22A5 gene.
【作者单位】：柳州市妇幼保健院医学遗传科/柳州市出生缺陷预防与控制重点实验室;
【基金】：广西卫生厅项目(Z2016547)(Z20170530) 柳州市科学研究与技术开发计划项目研究成果资助(2014G020404)
【分类号】：R722.1

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