[中国汉族人群中NOS1AP基因多态性与猝死的相关性]
[Correlation of NOS1AP gene polymorphisms with sudden unexpected death in Chinese Han population].
作者信息
Huang Jing-Lu, Hao Bo, Wang Xiao-Guang, Liu Hong, Li Ming, Quan Li, Sheng Li-Hui, Liu Chao, Luo Bin
出版信息
Fa Yi Xue Za Zhi. 2014 Feb;30(1):27-30, 35.
OBJECTIVE
To investigate the single nucleotide polymorphism of NOS1AP gene with sudden unexpected death (SUD) during daily activities.
METHODS
The heart blood samples were collected from 60 SUD cases in normal daily activities as SUD group and the peripheral blood samples from 80 random unrelated cases as control group. The genome DNAs from all cases were isolated and the gene sequences were analyzed from specific primers of some SNP (rs10494366, rs10918859, rs12143842, rs12742393, rs3751284, and rs348624) of NOS1AP. The allele frequency and genotype frequency were calculated and the difference in these SNP between SUD group and control group were analyzed.
RESULTS
The allele frequency and genotype frequency of rs3751284 which located at the sixth exon domain had significant statistical differences between the two groups (P<0.05). The minor allele frequency of rs3751284 was 0.325 in SUD group and was 0.475 in control group.
CONCLUSION
rs3751284 might be a susceptibility locus for SUD.
目的
研究一氧化氮合酶1适配蛋白（NOS1AP）基因单核苷酸多态性与日常活动期间意外猝死（SUD）的关系。
方法
收集60例日常活动中意外猝死患者的心血样本作为SUD组，收集80例随机选取的无关个体的外周血样本作为对照组。提取所有样本的基因组DNA，使用NOS1AP基因特定单核苷酸多态性（SNP，rs10494366、rs10918859、rs12143842、rs12742393、rs3751284和rs348624）的引物分析基因序列。计算等位基因频率和基因型频率，并分析SUD组和对照组这些SNP的差异。
结果
位于第六外显子区域的rs3751284的等位基因频率和基因型频率在两组之间存在显著统计学差异（P<0.05）。rs3751284在SUD组的次要等位基因频率为0.325，在对照组为0.475。
结论
rs3751284可能是SUD的一个易感位点。
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