[中国肥厚型心肌病患者心肌肌球蛋白结合蛋白C基因中的新型热点突变S236G]
[A novel hot-spot mutation S236G in the cardiac myosin binding protein C gene in Chinese patient with hypertrophic cardiomyopathy].
作者信息
Wang Hu, Song Lei, Zou Yu-bao, Wang Ji-zheng, Sun Kai, Gao Shuo, Zhang Chan-na, Hui Ru-tai
机构信息
Sino-German Laboratory for Molecular Medicine, Fu Wai Cardiovascular Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100037, China.
出版信息
Zhonghua Xin Xue Guan Bing Za Zhi. 2009 Dec;37(12):1078-80.
OBJECTIVE
To identify the disease-causing gene mutations and to reveal the relationship between the genotype and the phenotype in Chinese patients with hypertrophic cardiomyopathy (HCM).
METHODS
One hundred unrelated patients with HCM and 120 controls were enrolled in this study. The full encoding exons and flanking sequences of the cardiac myosin binding protein C gene (MYBPC3) were amplified with PCR and the products were sequenced.
RESULTS
A novel missense mutation c.706T > C was identified in exon 6 of MYBPC3 gene in three HCM patients, which resulted a Serine (S) to Glycine (G) exchange at amino acid residue 236 (S236G). The clinical phenotypes of the three patients were different (2 obstructive HCM, 1 non-obstructive HCM). The 120 controls were normal in the genetic test.
CONCLUSIONS
The novel S236G mutation in MYBPC3 gene was a hot-spot mutation in Chinese patients with HCM.
目的
鉴定肥厚型心肌病（HCM）中国患者的致病基因突变，并揭示基因型与表型之间的关系。
方法
本研究纳入了100例无亲缘关系的HCM患者和120例对照。采用聚合酶链反应（PCR）扩增心肌肌球蛋白结合蛋白C基因（MYBPC3）的全部编码外显子及其侧翼序列，并对产物进行测序。
结果
在3例HCM患者的MYBPC3基因外显子6中鉴定出一个新的错义突变c.706T > C，该突变导致氨基酸残基236处的丝氨酸（S）替换为甘氨酸（G）（S236G）。这3例患者的临床表型不同（2例梗阻性HCM，1例非梗阻性HCM）。120例对照的基因检测结果正常。
结论
MYBPC3基因中的新S236G突变是中国HCM患者中的一个热点突变。
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