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首页> 外文期刊>Nature reviews. Urology >DSTYK gene linked to urinary tract defects
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DSTYK gene linked to urinary tract defects

机译：DSTYK基因与尿路缺陷有关

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Researchers performed genome-wide linkage analysis in a Sardinian family with an autosomal dominant disorder. Seven family members were considered to be affected based on imaging studies, three of whom were diagnosed with end-stage renal disease at a young age owing to ureteropelvic junction obstruction. Five regions of the genome were found to be shared among the affected patients, corresponding to 55.44 Mb of the genome and containing 645 protein-coding genes. Exome sequencing, used to evaluate all of these genes simultaneously in two patients, revealed that DSTYK was the gene of interest. A heterozygous splice-site mutation was found in all affected individuals.Gharavi and colleagues analysed DSTYK in 311 additional patients with congenital malformations of the urinary tract and kidney, finding independent
机译：研究人员在具有常染色体显性遗传疾病的撒丁岛家族中进行了全基因组连锁分析。根据影像学研究，认为有7位家庭成员受到影响，其中3位在年轻时被诊断为输尿管-盆腔连接处阻塞而患有终末期肾脏疾病。发现基因组的五个区域在受影响的患者之间共享，对应于基因组的55.44 Mb，并包含645个蛋白质编码基因。用于在两名患者中同时评估所有这些基因的外显子组测序表明，DSTYK是目标基因。在所有受影响的个体中均发现了一个杂合的剪接位点突变.Gharavi及其同事对311名其他先天性尿路和肾脏畸形患者进行了DSTYK分析，发现

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