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首页> 外文期刊>Journal of genetics >Mutational screening of PKD2 gene in the north Indian polycystic kidney disease patients revealed 28 genetic variations
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Mutational screening of PKD2 gene in the north Indian polycystic kidney disease patients revealed 28 genetic variations

机译：北印度多囊肾病患者的PKD2基因的突变筛查显示出28个遗传变异

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Polycystic kidney disease (PKD) is a systemic disorder which adds majority of renal patients to end stage renal disease. Autosomal dominant polycystic kidney disease (ADPKD) is more prevalent and leading cause of dialysis and kidney transplant. Linkage analysis revealed some closely linked loci, two of which are identified as PKD1, PKD2 and an unidentified locus to ADPKD. This study was performed using PCR and automated DNA sequencing in 84 cases and 80 controls to test potential candidature of PKD2 as underlying cause of PKD by in silico and statistical analyses. Two associated symptoms, hypertension (19%) and liver cyst (31%) have major contribution to PKD. Gender-based analysis revealed that familial female patients (27%) and familial male patients (33%) are more hypertensive. Liver cyst, the second major contributing symptom presented by large percentage of sporadic males (46%). Genetic screening of all 15 exons of PKD2 revealed eight pathogenic (c.854_854delG, c.915C A, c.973C T, c.1050_1050delC, c.1604_1604delT, c.1790T C, c.2182_2183delAG, c.2224C T) and eight likely pathogenic (g.11732A G, c.646T C, c.1354A G, g.39212G C, c.1789C A, c.1849C A, c.2164G T, c.2494A G) DNA sequence variants. In our study, 27.38% (23/84) cases shown pathogenic / likely pathogenic variants in PKD2 gene. Some regions of PKD2 prone for genetic variation suggested to be linked with disease pathogenesis. This noticeable hot spot regions hold higher frequency (50%) of pathogenic / likely pathogenic genetic variants constituting single nucleotide variants than large deletion and insertion that actually represents only 41.08% of coding sequence of PKD2. Statistically significant association for IVS3-22AA genotype was observed with PKD, while association of IVS4+62C T was found insignificant.
机译：多囊肾疾病（PKD）是一种全身性疾病，可增加大多数肾病患者末期肾病。常染色体占优势多囊肾疾病（ADPKD）更普遍，透析和肾移植的主要原因。联动分析显示了一些紧密连接的基因座，其中两种鉴定为PKD1，PKD2和未识别的轨迹到ADPKD。该研究在84例中使用PCR和自动化DNA测序进行，80例对照，以测试PKD2的潜在候选作为PKD的潜在原因，通过硅和统计分析。两个相关的症状，高血压（19％）和肝囊肿（31％）对PKD具有重大贡献。基于性别的分析显示，家族女性患者（27％）和家族性男性患者（33％）更高血压。肝脏囊肿，第二次主要贡献症状由大百分比的散发性雄性（46％）。所有15个PKD2外显子的遗传筛选揭示了八种病原（C.854_854DelG，C.915C＆GT; A，C.973C＆GT; T，C.1050_1050DelC，C.1604_1604Delt，C.1790T＆Gt; C，C.2182_2183Delag，C.C .2224c＆ t）和八种可能的病原（g.11732a＆ g，c.646t＆ c，c.1354a＆ g，g.9212g＆ c，c.1789c＆ a，c.1849c＆gt ; a，c.2164g＆ t，c.2494a＆ g）DNA序列变体。在我们的研究中，27.38％（23/84）病例显示了PKD2基因中的致病/可能的致病变体。一些PKD2容易获得遗传变异的区域，建议与疾病发病机制相关联。该显着的热点区域具有较高的频率（50％）的致病/可能的致病性遗传变体，其构成单个核苷酸变体，其缺失和插入实际上仅代表PKD2的编码序列的41.08％。用PKD观察到IVS3-22AA基因型的统计学意义，而IVS4 + 62C＆GT的关联。被发现微不足道。

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