19例喀什地区维吾尔族居民的主动脉疾病基因突变分析

目的 探讨喀什地区少数民族的主动脉疾病基因突变类型，分析其与临床表型的相关性。方法 利用二代测序技术对包含马凡综合征在内的19例新疆维吾尔族主动脉疾病家系的37个相关致病基因进行基因检测|、分析，并对其近亲家属完成sanger验证。结果 本研究纳入19个主动脉疾病家系，共检测出23个突变位点，有11例先证者（57.89%）存在一个或以上的基因突变。其中有1例（5.26%）为明确的致病性突变；8例（42.11%）检测出意义未明性突变；7例（36.84%）检测出良性/可能良性突变。23个突变位点中包括有1个（5.26%）明确的致病性突变位点，14个（60.87%）意义未明的基因突变，8个（34.78%）良性/可能良性突变。对14个意义未明突变位点采用SIFT及Polyphen2 HDIV软件预测，发现6个（42.86%）为有害性/可能有害性 突变。对8个良性/可能良性突变位点进行上述软件预测，结果均为有害性/可能有害性突变。结论 本研究发现了23个突变位点，其中22个尚待以后更多的患者数据进行验证。基因诊断有助于患者及其近亲属的早期诊断及鉴别诊断。

Gene mutation analysis of 19 Uighur families with aortic disease in Kashgar,China

Objective To explore genetic mutation types and their correlation with clinical phenotypes in Uighur patients with aortic disease in Kashgar (Xinjiang Uighur Autonomous Region, China). Methods We examined 37 pathogenic genes in 19 Uighur families with aortic diseases including Marfan syndrome from Kashgar using next generation sequencing, and the results were confirmed by Sanger sequence in the first relatives. Results This study included 19 families with aortic diseases, in whom a total of 23 variants were identified, and 11 (57.89% ) probands had one or more variants. Among them, definite pathogenic mutation was detected in one patient (5.26%), variants of uncertain significance (VUS) were found in 8 (42.11%), and benign/likely benign variants were detected in 7 (36.84% ). The 23 variants identified included one (5.26% ) pathogenic variant, 14 (60.87%) VUS, and 8 (34.78%) benign/likely benign variants. The 14 VUS were analyzed by prediction with SIFT and Polyphen2 HDIV, which identified 6 (42.86%) variants as deleterious/possibly damaging; all the 8 benign/likely benign variants were predicted to be deleterious/possibly damaging. Conclusions We detected 23 genetic variants in the 19 Uighur families with aortic diseases, and 22 of these variants remain to be verified by more patient data in future studies.