全基因组测序技术在髓质海绵肾病因学的研究  

Etiological research of medullary sponge nephropathy using whole-genome sequencing technology

作　　者：李高 陈明 陈元浩[1] 李彦生[1] 韩修武[1] 张鑫[1] Li Gao;Chen Ming;Chen Yuanhao;Li Yansheng;Han Xiuwu;Zhang Xin(Department of Urology,Beijing Chao-Yang Hospital,Capital Medical University,Beijing 100043,China;Department of Surgery,Hengtai Maternal and Child Health-Care Institution,Zibo 256400,China)

机构地区：[1]首都医科大学附属北京朝阳医院泌尿外科,100043 [2]恒台县妇幼保健院外科,淄博256400

出　　处：《中华实验外科杂志》2022年第4期737-740,共4页Chinese Journal of Experimental Surgery

摘　　要：目的观察髓质海绵肾(MSK)患者基因特点,探讨遗传因素在MSK发生中的作用。方法采用全基因组测序,对7例髓质海绵肾结石患者进行基因检测,并与正常人基因组进行差异分析,基因型频率差异倍数在10倍以上,认为在患者和对照之间差异有统计学意义,可能与疾病发生明显相关。通过基因本体(GO)分析出其与髓质海绵肾发生存在的关系,筛选出在中国人群中该疾病发生相关的因素,为进一步的筛查诊断及治疗提供依据。结果髓质海绵肾患者存在两类出现频率较高的基因,分子功能方面(GO:0005488 Gene 1003,GO:0003674 Gene 1138,GO:0005515 Gene 795,GO:0005509 Gene 86,GO:0043167 Gene 470),生物过程方面(GO:0007275 Gene 440,GO:0048856 Gene 463,GO:0032502 Gene 487,GO:0009653 Gene 232,GO:0032501 Gene 566),可能导致髓质海绵肾的易感性。结论MSK患者存在基因水平的结石易感性。Objective To observe the genetic characteristics of medullary sponge kidney(MSK)patients and explore the role of genetic factors in the occurrence of MSK.Methods Genetic testing was performed on 7 patients with MSK stones using whole-genome sequencing technology,and the difference in the whole-genome between MSK patients and normal individuals was analyzed.The difference was more than 10 times,which was considered statistical significance.It may be significantly associated with disease occurrence.Gene ontology(GO)was used to analyze the relationship between the genotypes and MSK occurrence.The MSK-related pathogenetic factors in Chinese population were screened out.Results Two kinds of genes with high frequency in MSK patients,including molecular function(GO:0005488 Gene 1003,GO:0003674 Gene 1138,GO:0005515 Gene 795,GO:0005509 Gene 86,GO:0043167 Gene 470);biological process(GO:0007275 Gene 440,GO:0048856 Gene 463,GO:0032502 Gene 487,GO:0009653 Gene 232,GO:0032501 Gene 566),may lead to predisposition to MSK.Conclusion MSK patients have a genetic predisposition to stones.

关 键 词：髓质海绵肾 基因检测 泌尿系结石 

分 类 号：R692[医药卫生—泌尿科学]