[1]李 昂a,吴维青a,吕 辛a,等.高通量测序技术对常染色体隐性Alport综合征两个家系遗传特征的实验诊断研究[J].现代检验医学杂志,2018,33(03):1-4，7.[doi:10.3969/j.issn.1671-7414.2018.03.001]
　LI Anga,WU Wei-qinga,L(¨overU)Xina,et al.Experimental Diagnostic Study on the Genetic Characteristics of Two Families with Autosomal Recessive Alport Syndrome Using Next Generation Sequencing Technology[J].Journal of Modern Laboratory Medicine,2018,33(03):1-4，7.[doi:10.3969/j.issn.1671-7414.2018.03.001]
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高通量测序技术对常染色体隐性Alport综合征两个家系遗传特征的实验诊断研究()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第33卷
期数:
2018年03期
页码:
1-4，7
栏目:
论著
出版日期:
2018-07-17

文章信息/Info

Title:
Experimental Diagnostic Study on the Genetic Characteristics of Two Families with Autosomal Recessive Alport Syndrome Using Next Generation Sequencing Technology
文章编号:
1671-7414(2018)03-001-05
作者:
李 昂1; 2a; 吴维青2a; 吕 辛1; 2a; 崔英霞2a; 夏欣一2a; 刘志红2b; 李晓军1; 2a
1.江苏大学医学院,江苏镇江 212013; 2.解放军南京总医院 a.检验医学研究所; b.肾脏病研究所,南京 210002
Author(s):
LI Ang1; 2a; WU Wei-qing2a; L(¨overU)Xin1; 2a; CUI Ying-xia2a; XIA Xin-yi2a; LIU Zhi-hongab; LI Xiao-jun1; 2a
1.School of Medicine,Jiangsu University,Jiangsu Zhenjiang 212013,China; 2a.Institute of Clinical Laboratory Science; 2b.National Clinical Research Center of Kidney Diseases,Nannjing General Hospital of PLA,Nanjing 210002,China
关键词:
Alport综合征;  良性家族血尿;  二代测序;  COL4A3基因;  COL4A4基因
分类号:
R394-33
DOI:
10.3969/j.issn.1671-7414.2018.03.001
文献标志码:
A
摘要:
目的 探讨高通量测序(NGS)技术对常染色体隐性Alport综合征(AS)家系不同临床表型个体的实验诊断作用。方法 应用靶序列捕获联合高通量测序的方法对2个AS两家系的先证者进行致病基因突变分析,并通过Sanger测序法对先证者及家系其他成员进行验证,综合分析家系成员临床表现、肾脏病理组织学检查与基因检测结果。结果 2例先证者分别检测到COL4A3 c.3769G>A和COL4A4 c.1715G>C纯合突变。先证者父母及同胞均为相应突变的杂合子。先证者均表现为典型的AS; 除了家系2的1名成员外,其他杂合子成员均表现为良性家族血尿。结论 研究明确了2个AS家系致病机理,发现COL4A3,COL4A4基因突变杂合携带者往往表现为良性家族血尿,NGS技术可在常染色体隐性遗传AS家系不同遗传特征的病因诊断中发挥重要作用,对进一步探索疾病发病机制及规范化诊疗有重要意义。
Abstract:
Abstract:Objective To explore the experimental diagnostic role of next generation sequencing(NGS)technology for different clinical phenotypes in the family of autosomal recessive Alport syndrome(AS).Methods The detection of causative gene mutation was carried out usingtargeted capture associated next generation sequencing.Sanger method was usedto pedigree verify.Meanwhile the clinical manifestation,pathological histological examination and genetic test results were analyzed.Results Two homozygous missense mutation COL4A3 c.3769G>A and COL4A4 c.1715G>Cwas detected in two Alport syndrome proband.The parents of the probands and their compatriots were the heterozygous carriers.The probands were typical AS.Inaddition to one patient in family 2,all heterozygous members showed benign family hematuria.Conclusion This study cleared the pathogenesis of the two AS families.Found that heterozygous carriers of COL4A3 or COL4A4 gene mutation often showed benign family hematuria.NGS technology can play animportant role in the diagnosis of autosomal recessive AS pedigree.It is of great significance to further explore the pathogenesis and standardized diagnosisand treatment of diseases.

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相似文献/References:

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备注/Memo

备注/Memo:
基金项目:江苏省临床医学科技专项(重点病种的规范化诊疗研究,BL2014072); 国家临床重点专科建设项目(2014ZDZK003-1)。 作者简介:李 昂(1991-),男,在读硕士研究生,研究方向:高通量测序及分子诊断,E-mail:li987001500@qq.com。 通讯作者:李晓军,主任技师,博士生导师,E-mail:xiaojunli62@126.com。
更新日期/Last Update: 2018-06-16