贵州医科大学学报

2016, v.41;No.190(07) 779-782

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一个复杂性PAF家系的遗传特征及其与KCNE1-S38G、D85N基因多态性的关系
Genetic Characteristics of A Complex Paroxysmal Atrial Fibrillation Family and Its Relationship with Single Nucleotide Polymorphism of KCNE1

胡睿;李伟;罗振华;吴立荣;
HU Rui;LI Wei;LUO Zhenhua;WU Lirong;Department of Cardiology,Hospital Affiliated to Guizhou Medical University;Central laboratory,Guizhou Provincial People's Hospital;

摘要(Abstract):

目的:调查1例复杂性阵发性心房颤动(PAF)先证者家系遗传特征,探讨复杂性PAF与钾离子通道KCNE1-S38G、D85N基因多态性的关系。方法:确诊的1例复杂性PAF先证者,收集其家系所有成员资料,绘制家系图谱,分析该家系遗传特征;提取该家系先证者及后代外周静脉血基因组DNA,采用聚合酶链反应(PCR)扩增KCNE1-S38G、D85N基因特异目的片段,进行DNA序列测定,测序结果经BLAST对比,分析该家系成员KCNE1-S38G、D85N基因多态性。结果:绘制家系图谱发现,该家系符合常染色体显性遗传病特征;经BLAST对比发现家系中发病成员与未发病成员的KCNE1-S38G、D85N基因特异片段测序与野生型基因DNA序列一致。结论:该复杂性PAF家系为常染色体显性遗传,其KCNE1-S38G、D85N基因序列未发生改变。
Objective: To investigate the genetic characteristics of a complex paroxysmal atrial fibrillation( PAF) family,and to explore the relationship between complex PAF and single nucleotide polymorphism of potassium ion channel gene( KCNE1). Methods: One case diagnosed as complex PAF syndrome were studied,the data of all the family members were collected,family map was drawn,genetic characteristics of the family was analyzed. Peripheral venous blood genomic DNA of proband and her offspring was extracted,KCNE1-S38 G,D85N specific gene fragment was amplified by polymerase chain reaction( PCR),DNA sequence analysis was performed. The sequencing results were compared with BLAST and KCNE1-S38 G,D85N gene polymorphism was analyzed. Results: Family tree showed that it accorded with autosomal dominant genetic disease characteristic; BLAST comparison found that members who suffered from PAF or not had the same KCNE1-S38 G,D85N gene specific fragment sequence with wild type DNA sequence. Conclusion: This complex PAF family has autosomal dominant genetic disease characteristic,and the sequence of KCNE1-S38 G and D85 N doesn't change.

关键词(KeyWords): 心房颤动;多态性,单核苷酸;序列分析,DNA;常染色体显性遗传;钾离子通道基因
atrial fibrillation;polymorphism,single nucleotide;sequence analysis,DNA;autosomal dominant genetic disease;potassium ion channel gene

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基金项目(Foundation): 贵州省优秀科技教育人才省长基金(2011-27);; 贵州省科技厅社会发展公关基金[黔科合SY字(2012)3113];贵州省科技厅联合基金[黔科合LG字(2011)031]

作者(Author): 胡睿;李伟;罗振华;吴立荣;
HU Rui;LI Wei;LUO Zhenhua;WU Lirong;Department of Cardiology,Hospital Affiliated to Guizhou Medical University;Central laboratory,Guizhou Provincial People's Hospital;

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DOI: 10.19367/j.cnki.1000-2707.2016.07.008

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