Ji Yutong, Li Yaodong, Zhang Hongtao, Zhou Xianhui, Zhang Yu, Li Jinxin, Xing Qiang, Zhang Jianghua, Hong Yifan, Tang Baopeng
Pacing and Electrophysiology Department, First Affiliated Hospital of Xinjiang Medical University, Urumqi 830054, China.
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Zhonghua Xin Xue Guan Bing Za Zhi. 2015 Jun;43(6):521-6.
Detect the relationship between TPM1 gene mutations and dilated cardiomyopathy (DCM) of Kazaks and Hans in Xinjiang.
TPM1 gene was screened from 31 family members in a Kazak family with familiar DCM (FDCM), 100 patients with idiopathic DCM (IDCM, 50 Kazaks and 50 Hans), and in 100 healthy controls (50 Kazaks and 50 Hans). All the samples were the inpatients or outpatients of First Affiliated Hospital of Xinjiang University from 2012 to 2014. PCR was used to amplify 9 exons and nearby introns of the TPM1 gene. The amplified products were sequenced and compared with the standard sequence with CHROMAS software and BLAST software in Pubmed to identify mutation sites. The relationship between TPM1 gene mutations in the Kazak IDCM and healthy volunteers, between Han and Kazak IDCM and healthy volunteers was analyzed. Tropomyosin was qualitatively and quantitatively detected by ELISA in all subjects.
A novel variant (c.524 G > T) was identified in two FDCM patients at exon 3, this mutation caused an amino acid substitution, Gln111His. The FDCM, IDCM from Kazak and Han, healthy volunteers from Kazak and Han were founded a rs1071646 (c.644C > A, Ala151Ala). There was a significant difference in the genotype distribution (χ(2) = 13.36, P = 0.001) and allele frequency (χ(2) = 10.25, P = 0.001) between Kazaks with IDCM and Kazak controls of rs1071646, while these parameters were similar between Han IDCM patients and Han controls (all P > 0.05). The tropomyosin content of Kazak and Han IDCM patients were significantly lower than Kazak and Han controls ((1 764.2 ± 350.9) ng/L vs. (2 369.7 ± 345.9) ng/L, P = 0.001).
TPM1 gene of rs1071646 polymorphism is a possible independent risk factor for IDCM in Kazaks but not Han Chinese.
检测新疆哈萨克族和汉族人群中TPM1基因突变与扩张型心肌病（DCM）的关系。
选取一个患有家族性扩张型心肌病（FDCM）的哈萨克族家系中的31名家庭成员、100例特发性扩张型心肌病（IDCM，其中哈萨克族和汉族各50例）患者以及100名健康对照者（哈萨克族和汉族各50例）作为研究对象。所有样本均来自2012年至2014年新疆医科大学第一附属医院的住院或门诊患者。采用聚合酶链反应（PCR）扩增TPM1基因的9个外显子及其附近内含子。对扩增产物进行测序，并使用CHROMAS软件和PubMed中的BLAST软件与标准序列进行比对，以确定突变位点。分析哈萨克族IDCM患者与健康志愿者、汉族与哈萨克族IDCM患者与健康志愿者之间TPM1基因突变的关系。采用酶联免疫吸附测定（ELISA）法对所有研究对象的原肌球蛋白进行定性和定量检测。
在3号外显子的两名FDCM患者中鉴定出一种新的变异（c.524 G>T），该突变导致氨基酸替换，即Gln111His。在哈萨克族和汉族的FDCM、IDCM患者以及哈萨克族和汉族健康志愿者中均发现rs1071646（c.644C>A，Ala151Ala）。rs1071646在哈萨克族IDCM患者与哈萨克族对照者之间的基因型分布（χ²=13.36，P=0.001）和等位基因频率（χ²=10.25，P=0.001）存在显著差异，而在汉族IDCM患者与汉族对照者之间这些参数相似（均P>0.05）。哈萨克族和汉族IDCM患者的原肌球蛋白含量显著低于哈萨克族和汉族对照者（（1764.2±350.9）ng/L vs.（2369.7±345.9）ng/L，P=0.001）。
rs1071646多态性的TPM1基因是哈萨克族IDCM的一个可能的独立危险因素，而在汉族中并非如此。
