Postmortem genetic screening of SNPs in RyR2 gene in sudden unexplained nocturnal death syndrome in the southern Chinese Han population
Postmortem genetic screening of SNPs in RyR2 gene in sudden unexplained nocturnal death syndrome in the southern Chinese Han population
复制标题
中国南方汉族人群夜间不明原因猝死综合征RyR2基因SNPs死后遗传学筛查
DOI：
10.1016/j.forsciint.2013.12.007
复制
发表时间：
2014-02-01
影响因子：
2.2
通讯作者：
Cheng, Jianding
中科院分区：
文献类型：
--
作者：
Huang, Lei;Liu, Chao;Cheng, Jianding
为探讨中国南方汉族人群不明原因夜间猝死综合征（SUNDS）患者RyR 2基因的遗传变异，我们采用聚合酶链反应（PCR）和直接测序方法，对与散发性SUNDS患者的儿茶酚胺能多态性室性心动过速（CPVT）和致心律失常性右室心肌病（ARVC）相关的RyR 2基因105个编码外显子中的29个进行了基因筛查。从127例SUNDS病例和165例健康无关对照的血液样本中提取基因组DNA。在127例SUNDS病例中未发现已发表或新的RyR 2错义突变。总共鉴定了RyR 2基因的16种遗传变体，包括：一种新的同义编码突变（c. 13710 C>A），一种新的同义罕见多态性（c. 14871 C>T）和14个先前报道的多态性。本文报道了错义多态性c的基因型和等位基因频率。5656 G>A（G1886 S）在SUNDS组与对照组之间差异无统计学意义（χ 2 = 0.390，P > 0.05; χ 2 = 0.271，P > 0.05）。这是中国南方汉族人群中首次报道SUNDS RyR 2基因的遗传表型。先前报道的致病性错义多态性G1886 S可能不是中国南方汉族人群SUNDS的独立易感因素。RyR 2基因的遗传变异与SUNDS的关联需要进一步阐明。(C)2013爱思唯尔爱尔兰有限公司版权所有。
To investigate the genetic variants of the RyR2 gene in sudden unexplained nocturnal death syndrome (SUNDS) in the southern Chinese Han population, we genetically screened 29 of the 105 coding exons of the RyR2 gene associated with catecholaminergic polymorphic ventricular tachycardia (CPVT) and arrhythmogenic right ventricular cardiomyopathy (ARVC) in sporadic SUNDS victims using polymerase chain reaction (PCR) and direct sequencing methods. Genomic DNA was extracted from blood samples of 127 SUNDS cases and 165 healthy unrelated controls. None of the published or novel RyR2 missense mutations were found in 127 SUNDS cases. A total of sixteen genetic variants of the RyR2 gene were identified, comprised of: one novel synonymous coding mutation (c. 13710C>A), one novel synonymous rare polymorphism (c. 14871C>T), and fourteen previously reported polymorphisms. The genotype and allele frequency of previously reported missense polymorphism c. 5656G>A (G1886S) was of no statistical difference between SUNDS cases and controls (chi(2) = 0.390, P > 0.05; chi(2) = 0.271, P > 0.05). This is the first report of genetic phenotype of RyR2 gene of SUNDS in the southern Chinese Han population. Previously reported plausible pathogenic missense polymorphism G1886S may not be an independent predisposition factor of SUNDS in the southern Chinese Han population. The association of genetic variants of the RyR2 gene with SUNDS needs further elucidation. (C) 2013 Elsevier Ireland Ltd. All rights reserved.