摘要
目的:研究青海高原地区先天性心脏病(CHD)患者生长/分化因子1(gdf1)基因错义突变的情况,探讨CHD和gdf1基因之间可能的潜在关联。方法:分别收集100例散发型CHD患者和正常健康对照对象的血液,利用PCR扩增gdf1基因全部编码外显子及其周围序列,对PCR产物直接测序,进行突变检测,并与GeneBank数据库进行比较得到突变位点,然后进行生物信息学分析。结果:在一名藏族室间隔缺损(VSD)患者中发现了gdf1基因的1个新的错义突变c.489G>A(p.W163C),该突变位于gdf1成熟蛋白前体区域。结论:在青海高原地区先心病患者中发现了gdf1基因的错义突变,表明gdf1基因突变可能与高原地区先天性心脏缺陷中的VSD发生相关。
Objective.. To investigate the missense mutations of growth/differentiation factor 1 （gdfl）gene in patients with congenital heart disease （CHD） and discuss the potential association between them. Methods： The blood sample of 100 patients with CHD and 100 normal controls were respectively collected. All the coding regions of gdfl gene were amplified by polymerase chain reaction （PCR）. The PCR products were directly sequenced and compared to GeneBank database to find mutations. /3ioinformatics analysis was done to predict the influence of mutations on protein. Results： A novel missense mutation c.489G〉A （p.W163C）, located in the gdfl mature protein precursor region, was identified in a patient with ventricular septal defect （VSD）. Conclusion： A missense mutation of gdfl gene in a CHD patient living in Qinghai plateau was found, which indicates that mutations in gdfl may associate with VSD in patients living in high altitude.
出处
《中国计划生育学杂志》
2015年第8期530-533,共4页
Chinese Journal of Family Planning
基金
国家自然科学基金(81460282
81260299)
青海省应用基础研究资助项目(2013-Z-744)
关键词
高原
先天性心脏病
生长/分化因子基因
突变
室间隔缺损
Plateau
Congenital heart disease
Growth/differentiation factor gene
Mutation
Ventricular septal defect
