摘要
目的研究分析核纤层蛋白基因(LMNA)与新疆地区维吾尔族、汉族特发性扩张型心肌病(IDCM)患者的突变特点。方法对新疆医科大学第一附属医院2011年10月至2012年11月收治确诊的123例IDCM患者(维吾尔族患者56例,汉族患者67例)和160名健康对照(维、汉两民族各80名)进行LMNA的基因筛查,对目的基因直接测序得到测序结果,采用关联分析分析多态性位点与IDCM表型的关系。结果在1例汉族IDCM患者中发现6号外显子单碱基突变(rs267607603)。LMNA基因多态性rs538089在IDCM维吾尔族病例组与对照组间基因型分布和等位基因频率差异有统计学意义(P<0.05),LMNA基因多态性rs538089可能与维吾尔族IDCM相关。结论LMNA基因多态性rs538089可能是新疆地区维吾尔族发生IDCM的危险因素之一。
Objective To explore the potential association between LMNA gene with IDCM in Uygurs and Hans people in Xinjiang area. Methods Peripheral blood samples were collected from 123 sporadic patients with IDCM（56 patients with Uygur and 67 patients with Han people）.80 Uygur and80 Han people were chosen as normal healthy. PCR was used to am plify the 12 exons of LMNA gene. The amplified products were sequenced and compared with the standard sequence in the NCBI so as to determine the mutation sites. Results One new variation was identified in 1 Han patient with IDCM and was located at exon 6 of LMNA gene. In Uygurs,significant difference in rs538089 polymorphism was found between Uygurs and control groups（P 0.05）. Conclusion LMNA mutations is associated with IDCM and difference is found in distribution of snp of LMNA rs538089 in Uygurs and Hans people. Rs538089 polymorphism in LMNA gene might be a risk factor of DCM in Uigurs people in Xinjiang.
出处
《中国实用内科杂志》
CAS
CSCD
北大核心
2014年第7期698-701,共4页
Chinese Journal of Practical Internal Medicine
基金
新疆维吾尔自治区科技支撑计划项目(201133124)
