RYR2基因与心脏性猝死的相关性研究

Analyze the variations of RYR2 gene and address the association with sudden cardiac death

目的探寻RYR2基因的变异位点G1886S,讨论其与心脏性猝死(sudden cardiac death,SCD)的关系。方法提取SCD组及健康对照组血样的基因组DNA,采用PCR法扩增G1886S基因编码区外显子、外显子-内含子交界区以及3′侧翼区序列,直接进行DNA测序以明确遗传变异类型,并进行基因型频率和等位基因频率的统计学分析。结果在SCD组检测到2个变异位点,后者在SCD组合对照组中基因型分布和等位基因频率存在差异,并具有统计学意义(P<0.05)。结论 RYR2基因变异位点G1886S与中国人SCD的发生的具有相关性。

Objective To analyze the variations of RYR2 gene and address the association with sudden cardiac death（SCD）. Methods The genomic DNA was extracted from blood samples of the SCD group and the normal control group. The exons,exon-in-tron boundaries and 3′-UTRs of coding region of RYR2 gene were PCR amplified and DNA sequenced directly to confirm the types of variations. The genotype frequency and allele frequency were analyzedstatistically. Results There were two variants in the SCD group,the latter existed certain degree difference of genotype distribution and allele frequency between the SCD groupand the control group,but there was statistically significant（P〈0.05）. Conclusion The gene mutation of RYR2 gene and the occurrence of Chinese SCDhave relation.