| 一例结节性硬化症家系的TSC基因变异分析及产前诊断 |
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| 引用本文： | 黄超,张芹,薛莹,李红,王挺.一例结节性硬化症家系的TSC基因变异分析及产前诊断[J].中华医学遗传学杂志,2021(2):154-157. |
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| 作者姓名： | 黄超 张芹 薛莹 李红 王挺 |
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| 作者单位： | 南京医科大学附属苏州医院苏州市立医院中心实验室;南京医科大学附属苏州医院苏州市立医院生殖医学国家重点实验室苏州分中心;南京医科大学附属苏州医院苏州市立医院生殖与遗传中心 |
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| 基金项目： | 苏州市临床医学中心(SZZX201505);江苏省医学创新团队(CXTDB2017013);苏州市临床医学专家团队(SZYJTD201708);江苏省妇幼保健重点学科(FXK201748)。 |
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| 摘 要： | 目的分析1个结节性硬化症(tuberous sclerosis complex,TSC)家系TSC1和TSC2基因变异位点并进行产前诊断。方法应用Sanger测序法分别对先证者及其家庭成员进行TSC1和TSC2基因变异检测分析。结果家系先证者TSC1基因检测未见异常,TSC2基因内含子24中存在1处剪切供位变异位点(c.2837+1dupG),变异位点位于外显子与内含子连接处,家系其他成员及产前诊断胎儿的TSC1和TSC2基因未检测出变异。结论TSC2基因c.2837+1dupG剪切供位变异可能是该结节性硬化症病例的致病原因,应用基因测序方法有助于丰富该疾病致病基因的变异谱。
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| 关 键 词： | 结节性硬化症 TSC基因 基因测序 产前诊断 |
Genetic testing and prenatal diagnosis for a pedigree affected with tuberous sclerosis complex |
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| Huang Chao,Zhang Qin,Xue Ying,Li Hong,Wang Ting.Genetic testing and prenatal diagnosis for a pedigree affected with tuberous sclerosis complex[J].Chinese Journal of Medical Genetics,2021(2):154-157. |
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| Authors: | Huang Chao Zhang Qin Xue Ying Li Hong Wang Ting |
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| Institution: | (Central Laboratory,the Affiliated Suzhou Hospital of Nanjing Medical University,Suzhou Municipal Hospital,Suzhou,Jiangsu 215002,China;Suzhou Branch of the State Key Laboratory of Reproductive Medicine,the Affiliated Suzhou Hospital of Nanjing Medical University,Suzhou Municipal Hospital,Suzhou,Jiangsu 215002,China;Reproductive and Genetic Center,the Affiliated Suzhou Hospital of Nanjing Medical University,Suzhou Municipal Hospital,Suzhou,Jiangsu 215002,China) |
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| Abstract: | Objective To explore the genetic basis for Chinese pedigree affected with tuberous sclerosis complex(TSC).Methods The proband and his family members were subjected to Sanger sequencing for variants of the TSC1 and TSC2 genes.Results The proband was found to harbor a c.2837+1dupG splicing variant at a donor site of the TSC2 gene.The same variant was not found among his family members and a fetus during his mother’s subsequent pregnancy.Conclusion The c.2837+1dupG splicing variant of the TSC2 gene has probably predisposed to the TSC in this pedigree.Above finding has enriched the spectrum of pathogenic variants associated with this disease. |
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| Keywords: | Tuberous sclerosis complex TSC gene Gene sequencing Prenatal diagnosis |
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