| 一例多种羧化酶缺乏症的HLCS基因变异分析 |
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| 引用本文： | 邢雪莎,刘双,罗萍,黎芳,吴雨虹,王述森,麻宏伟,罗阳.一例多种羧化酶缺乏症的HLCS基因变异分析[J].中华医学遗传学杂志,2020(4):419-422. |
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| 作者姓名： | 邢雪莎 刘双 罗萍 黎芳 吴雨虹 王述森 麻宏伟 罗阳 |
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| 作者单位： | 中国医科大学生命科学学院医学基因组学教研室教育部医学细胞生物学重点实验室;中国医科大学附属盛京医院发育儿科 |
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| 基金项目： | 国家自然科学基金(81601874);辽宁省教育厅重点项目(LZDK201703)。 |
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| 摘 要： | 目的对1例临床诊断为多种羧化酶缺乏症(multiple carboxylase deficiency,MCD)的患儿及其父母进行相关致病基因的变异分析,为临床诊断及遗传咨询提供依据。方法应用PCR技术和DNA测序技术对患儿的MCD致病基因BT和HLCS编码区进行变异检测,并对患儿父母进行相应基因变异分析。在80名正常人中对未报道过的基因变异进行PCR-限制性片段长度多态性分析。结果患儿的BT基因编码区未发现碱基改变,HLCS基因存在c.286delG(p.Val96Leufs*162)和c.1648G>A(p.Val550Met)复合杂合变异,其中c.286delG(p.Val96Leufs*162)经PCR-限制性片段长度多态性分析验证为新变异。结论HLCS基因c.286delG(p.Val96Leufs*162)和c.1648G>A(p.Val550Met)变异可能为患儿的致病原因,致病基因的检出为临床诊断及遗传咨询提供了依据,同时丰富了HLCS基因变异谱。
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| 关 键 词： | 多种羧化酶缺乏症 HLCS基因 基因变异 |
Gene variant analysis of a patient with multiple carboxylase deficiency |
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| Xing Xuesha,Liu Shuang,Luo Ping,Li Fang,Wu Yuhong,Wang Shusen,Ma Hongwei,Luo Yang.Gene variant analysis of a patient with multiple carboxylase deficiency[J].Chinese Journal of Medical Genetics,2020(4):419-422. |
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| Authors: | Xing Xuesha Liu Shuang Luo Ping Li Fang Wu Yuhong Wang Shusen Ma Hongwei Luo Yang |
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| Institution: | (Department of Medical Genomics,Key Laboratory of Medical Cell Biology of the Ministry of Education,School of Life Science,China Medical University,Shenyang,Liaoning 110122,China;Department of Developmental Pediatrics,Shengjing Hospital Affiliated to China Medical University,Shenyang,Liaoning 110001,China) |
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| Abstract: | Objective To explore the genetic basis for a patient featuring multiple carboxylase deficiency(MCD).Methods PCR and Sanger sequencing were used to detect variant in the coding region of BT and HLCS genes in the patient.Suspected variants were verified in her parents and 80 unrelated healthy controls by a PCR-restriction fragment length polymorphism(PCR-RFLP)method.Results The patient was found to carry compound heterozygous variants of the HLCS gene,namely c.286delG(p.Val96Leufs*162)and c.1648G>A(p.Val550Met).The c.286delG(p.Val96Leufs*162)was verified to be a novel variant based on the result of PCR-RFLP analysis.No variant was found in the coding regions of BT gene in the patient.Conclusion The compound c.286delG(p.Val96Leufs*162)and c.1648G>A(p.Val550Met)variants probably underlie the MCD disorder in this patient.Above results have enriched the variant spectrum of MCA. |
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| Keywords: | Multiple carboxylase deficiency HLCS gene Gene variant |
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