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

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 poly-morphism 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,ge-netic characteristics of the family was analyzed. Peripheral venous blood genomic DNA of proband and her offspring was extracted,KCNE1-S38G,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-S38G,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-S38G,D85N gene specific fragment se-quence with wild type DNA sequence. Conclusion：This complex PAF family has autosomal dominant genetic disease characteristic,and the sequence of KCNE1-S38G and D85N doesnˊt change.