[1]王晨,梁明钰,王建波,等.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,(03):266-271.[doi:10.13735/j.cjdv.1001-7089.202004023]
 WANG Chen,LIANG Mingyu,WANG Jianbo,et al.Mutation Analysis of A Pedigree with Ichthyosis Bullosa of Siemens and Literature Review[J].The Chinese Journal of Dermatovenereology,2021,(03):266-271.[doi:10.13735/j.cjdv.1001-7089.202004023]
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Siemens大疱性鱼鳞病基因突变研究及文献回顾分析()
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《中国皮肤性病学杂志》[ISSN:1001-7089/CN:61-1197/R]

卷:
期数:
2021年03期
页码:
266-271
栏目:
论著
出版日期:
2021-03-01

文章信息/Info

Title:
Mutation Analysis of A Pedigree with Ichthyosis Bullosa of Siemens and Literature Review
文章编号:
1001-7089(2021)03-0266-06
作者:
王晨1梁明钰2王建波1窦进法1段紫钰1邵依1张守民1李振鲁1
1.河南省人民医院皮肤科,郑州大学人民医院皮肤科,河南大学人民医院皮肤科, 河南 郑州 450003; 2.中南大学湘雅医学院,湖南 长沙 410013
Author(s):
WANG Chen1 LIANG Mingyu2 WANG Jianbo1 DOU Jinfa1 DUAN Ziyu1 SHAO Yi1 ZHANG Shoumin1 LI Zhenlu1
(1.Department of Dermatology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Henan University People's Hospital, Zhengzhou 450003, China; 2.Xiangya Medical College, Central South University, Changsha 410013, China)
关键词:
Siemens大疱性鱼鳞病 KRT2基因 基因型 表型
Keywords:
Ichthyosis bullosa of Siemens KRT2 gene Genotype Phenotype
分类号:
R 758.52
DOI:
10.13735/j.cjdv.1001-7089.202004023
文献标志码:
A
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,Sanger测序验证。结果 先证者及其母亲在KRT2基因存在杂合点突变c.1459G>A(p.E487K),而100例健康对照者及先证者父亲均未发现该突变。结论 本研究在1个IBS家系中检测到1个致病突变位点KRT2基因c.1459G>A(p.E487K),同时丰富了IBS的基因型、表型及两者间的关系。
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.

参考文献/References:

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备注/Memo

备注/Memo:
[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)
[通信作者] 王建波, E-mail:wangjianbo1020@163.com
更新日期/Last Update: 2021-02-10