| Autor: |
K, Liu, Y B, Wang, J L, Du, P F, Qu, L, Ma, X, Tang, Y M, Xi, Y Q, Qu, Y H, Li, P P, Lei, S J, Nie |
| Rok vydání: |
2019 |
| Předmět: |
|
| Zdroj: |
Fa yi xue za zhi. 36(4) |
| ISSN: |
1004-5619 |
| Popis: |
Objective To explore the association of cardiac disease associated genetic variants and the high incidence of Yunnan sudden unexplained death （YNSUD） in Yi nationality. Methods The genomic DNA was extracted from peripheral blood samples collected from 205 Yi villagers from YNSUD aggregative villages （inpatient group） and 197 healthy Yi villagers from neighboring villages （control group）. Fifty-two single nucleotide variants （SNVs） of 25 cardiac disease associated genes were genotyped using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry （MALDI-TOF-MS）. The SPSS 17.0 was used to analyze data. The pathogenicities of variants with differences between the two groups that have statistical significance were predicted by protein function prediction software PolyPhen-2 and SIFT. All villagers from inpatient group were given electrocardiogram （ECG） examination using a 12-lead electrocardiograph. Results The allele frequency and the genotype frequency of missense mutation DSG2 （rs2278792, c.2318GA, p.R773K） of pathogenic genes of arrhythmogenic right ventricular cardiomyopathy （ARVC） in inpatient group was higher than that in control group （云南不明原因猝死高发地区彝族人群心脏疾病相关基因变异.目的 探究心脏疾病相关基因变异与云南不明原因猝死（Yunnan sudden unexplained death，YNSUD）在彝族人群高发的相关性。 方法 采集205例YNSUD高发地区彝族村民（病区组）和197例邻村健康彝族村民（对照组）的外周静脉血，提取基因组DNA，使用基质辅助激光解吸/电离-飞行时间质谱技术对25个心脏疾病相关基因的52个单核苷酸变异（single nucleotide variant，SNV）位点进行基因分型。采用SPSS 17.0软件分析数据，通过蛋白功能预测软件PolyPhen-2和SIFT对两组间差异具有统计学意义的位点进行致病性预测。使用十二导联心电图机对病区组所有个体进行心电图检测。 结果 致心律失常型右心室心肌病致病基因的错义变异位点DSG2（rs2278792，c.2318GA，p.R773K）在病区组的等位基因频率及基因型频率均高于对照组（法医病理学；法医遗传学；DNA突变分析；云南不明原因猝死；单核苷酸变异；彝族. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
|
