| COL7A1基因复合杂合变异所致的隐性营养不良型大疱性表皮松解症家系的遗传学分析 |
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| 引用本文： | 吕雪,李昊,刘红彦,侴海燕,李涛,周武.COL7A1基因复合杂合变异所致的隐性营养不良型大疱性表皮松解症家系的遗传学分析[J].中华医学遗传学杂志,2020(4):445-448. |
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| 作者姓名： | 吕雪 李昊 刘红彦 侴海燕 李涛 周武 |
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| 作者单位： | 河南省人民医院（郑州大学人民医院）健康管理科;河南省人民医院（郑州大学人民医院）整形外科;河南省人民医院、华中阜外医院、郑州大学华中阜外医院医学检验科;河南省人民医院（郑州大学人民医院）医学遗传研究所;河南省人民医院（郑州大学人民医院）皮肤科 |
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| 基金项目： | 河南省科技攻关计划项目(162102310294);河南省医学科技攻关计划项目(2018020390);河南省卫生计生科技英才海外研修工程(2018151)。 |
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| 摘 要： | 目的对1个隐性营养不良型大疱性表皮松解症家系进行基因检测及产前诊断。方法利用PCR-Sanger测序技术检测患者COL7A1基因的全部外显子及其侧翼区的潜在变异,之后进行家系验证及产前基因诊断。结果Sanger测序显示患者COL7A1基因存在c.7289delC(p.Pro2430Glnfs*36)及c.7474C>T(p.Arg2492*)复合杂合变异,分别遗传自其母亲和父亲,在100名健康对照中未检测到上述变异。产前诊断胎儿COL7A1基因c.7289位置未见变异,c.7474位置存在C>T杂合变异,判断为携带者。结论明确了1例隐性营养不良型大疱性表皮松解症家系COL7A1基因的致病性变异,并成功进行了产前诊断。
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| 关 键 词： | 隐性营养不良型大疱性表皮松解症 COL7A1基因 产前诊断 基因检测 |
Genetic analysis of a child with recessive dystrophic epidermolysis bullosa due to compound heterozygous variants of COL7A1 gene |
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| Lyu Xue,Li Hao,Liu Hongyan,Chou Haiyan,Li Tao,Zhou Wu.Genetic analysis of a child with recessive dystrophic epidermolysis bullosa due to compound heterozygous variants of COL7A1 gene[J].Chinese Journal of Medical Genetics,2020(4):445-448. |
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| Authors: | Lyu Xue Li Hao Liu Hongyan Chou Haiyan Li Tao Zhou Wu |
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| Institution: | (Department of Health Management,Henan Provincial People’s Hospital(People’s Hospital of Zhengzhou University),Zhengzhou,Henan 450003,China;Department of Plastic Surgery,Henan Provincial People’s Hospital(People’s Hospital of Zhengzhou University),Zhengzhou,Henan 450003,China;Department of Medical Laboratory,Henan Provincial People’s Hospital,Central China Fuwai Hospital,Central China Fuwai Hospital of Zhengzhou University,Henan 450003,China;Institute of Medical Genetics,Henan Provincial People’s Hospital(People’s Hospital of Zhengzhou University),Zhengzhou,Henan 450003,China;Department of Dermatology,Henan Provincial People’s Hospital(People’s Hospital of Zhengzhou University),Zhengzhou,Henan 450003,China) |
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| Abstract: | Objective To carry out genetic testing and prenatal diagnosis for a family affected with recessive dystrophic epidermolysis bullosa(RDEB).Methods All exons of the COL7A1 gene and their flanking regions were subjected to PCR and Sanger sequencing.Suspected variant was validated in family members,based on which prenatal diagnosis was provided.Results Sanger sequencing found that the proband has carried two variants of the COL7A1 gene,namely c.7289delC(p.Pro2430Glnfs*36)and c.7474C>T(p.Arg2492*),which were respectively derived from his mother and father.The same variants were not found among 100 healthy controls.By prenatal diagnosis,the fetus was found to have inherited the c.7474C>T(p.Arg2492*)variant from its father.Conclusion The pathogenic variants of the COL7A1 gene of the RDEB family were clarified,based on which prenatal diagnosis was provided. |
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| Keywords: | Recessive dystrophic epidermolysis bullosa COL7A1 gene Prenatal diagnosis Genetic testing |
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