NPHS2基因多态性与散发性IgA肾病之间不存在关联。
Lack of association between NPHS2 gene polymorphisms and sporadic IgA nephropathy.
作者信息
Mao Jianhua, DU Lizhong, Gu Weizhong, Dai Yuwen, Liu Aimin, Xia Yonghui, Zhang Yang
机构信息
Department of Nephrology, The Children's Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang Province, China.
出版信息
Nephrology (Carlton). 2007 Aug;12(4):371-5. doi: 10.1111/j.1440-1797.2007.00803.x.
AIM
IgA nephropathy (IgAN) is the most common primary form of glomerulonephritis worldwide. In the present study, the genetic structure of the NPHS2 gene was studied to verify if podocin plays a role in the pathogenesis of IgAN.
METHODS
Clinical characteristics and DNA samples were collected from 26 Chinese children with sporadic IgAN. A direct sequencing was performed after polymerase chain reaction amplification to all the eight exons of the NPHS2 gene.
RESULTS
Three synonymous variants as known polymorphisms (954T-->C homozygous, 1038A-->G heterozygous and homozygous) were found in 3, 4 and 1 patients, respectively. There was no significant difference in the genotypic and allelic frequencies of 954T > C and 1038A > G polymorphisms between the patients and normal controls.
CONCLUSION
No significant difference in the genotypic and allelic frequencies of the identified 954T > C and 1038A > G polymorphisms between the patients and normal controls was found.
目的
IgA 肾病（IgAN）是全球最常见的原发性肾小球肾炎形式。在本研究中，对 NPHS2 基因的遗传结构进行研究，以验证足突蛋白是否在 IgAN 的发病机制中起作用。
方法
收集 26 例中国散发型 IgAN 儿童的临床特征和 DNA 样本。对 NPHS2 基因的所有八个外显子进行聚合酶链反应扩增后进行直接测序。
结果
分别在 3 例、4 例和 1 例患者中发现三个同义变异作为已知多态性（954T→C 纯合子、1038A→G 杂合子和纯合子）。患者与正常对照之间 954T＞C 和 1038A＞G 多态性的基因型和等位基因频率无显著差异。
结论
在患者与正常对照之间，所鉴定的 954T＞C 和 1038A＞G 多态性的基因型和等位基因频率未发现显著差异。
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