Chung W, Kim H, Hwang Y H, Kim S Y, Ko A-R, Ro H, Lee K B, Lee J S, Oh K-H, Ahn C
Department of Internal Medicine, Gil Medical Center, Gachon University, Incheon, Korea.
Clin Genet. 2006 Dec;70(6):502-8. doi: 10.1111/j.1399-0004.2006.00721.x.
Autosomal dominant polycystic kidney disease (ADPKD) is genetically heterogeneous and is caused by mutations in the PKD1 or PKD2 genes. ADPKD caused by PKD2 mutations is characterized by a longer survival and a later onset of end-stage renal disease than ADPKD caused by PKD1 mutations. PKD2 encodes a 2.9-kb messenger RNA and is derived from 15 exons. Two-dimensional gene scanning (TDGS) is more efficient in detecting mutations in genes such as PKD2 because it can scan the whole coding regions simultaneously. In order to determine the prevalence of Korean PKD2 patients, all the coding sequences of PKD2 were screened using TDGS and direct sequencing in 46 randomly selected ADPKD patients (group 1). Another 45 ADPKD patients (group 2), who were presumed to be PKD2 patients, were screened in order to identify the type of mutation in the Korean PKD2 patients. Eight novel different mutations and three known mutations in the PKD2 gene were detected in 17 patients: 6 patients (13.0%) in group 1 and 11 patients (24.4%) in group 2. Considering the sensitivity of TDGS, the prevalence of PKD2 in Korean population might be greater than 18.6%. Both known and novel mutations were identified by TDGS in Korean PKD2 patients. Overall, these results showed that TDGS might be useful for diagnosing PKD2.
常染色体显性多囊肾病（ADPKD）具有遗传异质性，由PKD1或PKD2基因突变引起。与PKD1基因突变导致的ADPKD相比，PKD2基因突变导致的ADPKD具有更长的生存期和更晚出现的终末期肾病。PKD2编码一个2.9kb的信使核糖核酸，由15个外显子组成。二维基因扫描（TDGS）在检测PKD2等基因的突变方面更有效，因为它可以同时扫描整个编码区域。为了确定韩国PKD2患者的患病率，在46例随机选择的ADPKD患者（第1组）中，使用TDGS和直接测序法对PKD2的所有编码序列进行了筛查。为了确定韩国PKD2患者的突变类型，对另外45例被推测为PKD2患者的ADPKD患者（第2组）进行了筛查。在17例患者中检测到PKD2基因的8种新的不同突变和3种已知突变：第1组6例（13.0%），第2组11例（24.4%）。考虑到TDGS的敏感性，韩国人群中PKD2的患病率可能大于18.6%。在韩国PKD2患者中，通过TDGS鉴定出了已知和新的突变。总体而言，这些结果表明TDGS可能有助于诊断PKD2。
