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首页> 外文期刊>Journal of genetics >CG/CA genotypes represent novel markers in the NPHS2 gene region associated with nephrotic syndrome
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CG/CA genotypes represent novel markers in the NPHS2 gene region associated with nephrotic syndrome

机译：CG / CA基因型代表与肾病综合征相关的NPHS2基因区域中的新型标记

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Nephrotic syndrome (NS) is considered as a primary disease of the kidney that represents a heterogeneous group of glomerular disorders occurring mainly in children. It is generally divided into steroid-sensitive and steroid-resistant forms, depending upon the patient's response to steroid therapy. Among the genes involved, the NPHS2 gene has been reported as the causative gene in steroid resistant form of nephrotic syndrome. In the present study, heterozygosity rate, allelic frequency and linkage of rs2274625 and rs3829795 markers were investigated in the NPHS2 gene region. To determine the SNP alleles, tetra-primer ARMS PCR was used. After genotyping rs2274625 and rs3829795 polymorphic markers in 120 unrelated individuals and nine trios families, the data were analysed using various computer programs such as UCSC Genome Browser, dbSNP and SNPper. Based on the statistical analysis of the results, for rs2274625 marker, allele frequency for C and T alleles was 97% and 3%, respectively. For rs3829795 marker allele frequency for G and A alleles was 55% and 45%, respectively. The values of heterozygosity index for the examined markers were 5% for rs2274625 and 45/8% for rs3829795. Consequently, two informative haplotypes, CG/CA, were identified in the NPHS2 gene region through combination of these two markers. These haplotypes can serve as appropriate tools for the identification of heterozygous carriers and linkage analysis of nephrotic syndrome disease in the Iranian families with an affected child.
机译：肾病综合征（NS）被认为是肾脏的一种原发性疾病，代表了主要发生在儿童的一组异质性肾小球疾病。根据患者对类固醇治疗的反应，它通常分为类固醇敏感型和类固醇抵抗型。在涉及的基因中，NPHS2基因已被报道为肾病综合征类固醇抵抗形式的致病基因。本研究调查了NPHS2基因区rs2274625和rs3829795标记的杂合率、等位基因频率和连锁。为了确定SNP等位基因，使用了四引物ARMS PCR。在对120个无关个体和9个三人家庭的rs2274625和rs3829795多态性标记进行基因分型后，使用各种计算机程序（如UCSC基因组浏览器、dbSNP和SNPper）对数据进行分析。基于对结果的统计分析，对于rs2274625标记，C和T等位基因的等位基因频率分别为97%和3%。对于rs3829795，G和A等位基因的标记等位基因频率分别为55%和45%。所检测标记的杂合性指数在rs2274625和rs3829795中分别为5%和45/8%。因此，通过这两个标记的组合，在NPHS2基因区鉴定出两个信息单倍型CG/CA。这些单倍型可以作为识别杂合子携带者的适当工具，并在有患病儿童的伊朗家庭中进行肾病综合征疾病的连锁分析。

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