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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 explore the mutation site G1886S of RYR2 gene and discuss its relationship with sudden cardiac death (SCD). Methods The genomic DNA was extracted from blood samples of SCD group and healthy control group. The coding region exon, exon-intron junction region and 3 ’flanking region of G1886S gene were amplified by PCR, and DNA sequencing was performed to confirm the genetic variation Type, and statistical analysis of genotype frequency and allele frequency. Results Two mutation sites were detected in SCD group. The latter genotype distribution and allele frequencies in SCD combined control group were statistically different (P <0.05). Conclusion There is a correlation between the G1886S mutation of RYR2 gene and the occurrence of SCD in Chinese.