| Siemens大疱性鱼鳞病基因突变研究及文献回顾分析 |
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| 引用本文： | 王晨,梁明钰,王建波,窦进法,段紫钰,邵依,张守民,李振鲁.Siemens大疱性鱼鳞病基因突变研究及文献回顾分析[J].中国皮肤性病学杂志,2021(3):266-271. |
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| 作者姓名： | 王晨 梁明钰 王建波 窦进法 段紫钰 邵依 张守民 李振鲁 |
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| 作者单位： | 河南省人民医院皮肤科;中南大学湘雅医学院 |
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| 基金项目： | 河南省医学科技攻关计划省部共建青年项目(SB201904011);河南省科技发展计划项目(182102310580)。 |
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| 摘 要： | 目的 确定1个Siemens大疱性鱼鳞病(ichthyosis bullosa of Siemens,IBS)家系的致病基因,探讨本病基因型、表型及两者间关系.方法 收集1个IBS家系先证者及其父母的临床资料,采集他们和100例无亲缘关系的健康对照者的外周血标本,提取DNA.应用二代皮肤靶向测序包检测该家系的基因突变,...
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| 关 键 词： | Siemens大疱性鱼鳞病 KRT2基因 基因型 表型 |
Mutation Analysis of A Pedigree with Ichthyosis Bullosa of Siemens and Literature Review |
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| WANG Chen,LIANG Mingyu,WANG Jianbo,DOU Jinfa,DUAN Ziyu,SHAO Yi,ZHANG Shoumin,LI Zhenlu.Mutation Analysis of A Pedigree with Ichthyosis Bullosa of Siemens and Literature Review[J].The Chinese Journal of Dermatovenereology,2021(3):266-271. |
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| Authors: | WANG Chen LIANG Mingyu WANG Jianbo DOU Jinfa DUAN Ziyu SHAO Yi ZHANG Shoumin LI Zhenlu |
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| Institution: | (Department of Dermatology,Henan Provincial People's Hospital,Zhengzhou University People's Hospital,Henan University People's Hospital,Zhengzhou 450003,China;Xiangya Medical College,Central South University,Changsha 410013,China) |
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| Abstract: | Objective To detect gene mutation in a pedigree with ichthyosis bullosa of Siemens(IBS),and explore phenotype,genotype and phenotype-genotype relationship.Methods Clinical data were collected from the proband of the IBS pedigree and his parents.Peripheral blood samples were obtained from them and 100 unrelated healthy controls.DNA was extracted.Detect gene mutations by skin targeted sequencing panel and then use Sanger sequencing method for verification.Results A heterozygous mutation c.1459G>A(p.E487K)of KRT2 gene was detected in the proband and his mother.Meanwhile,this mutation was not observed in 100 unrelated healthy controls or the father of the proband.Conclusion We identified a mutation c.1459G>A(p.E487K)of KRT2 gene in a Chinese families with IBS,and it enriched the research on the phenotype,genotype and phenotype-genotype relationship of IBS. |
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| Keywords: | Ichthyosis bullosa of Siemens KRT2 gene Genotype Phenotype |
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