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.

中文翻译：

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CG/CA 基因型代表与肾病综合征相关的 NPHS2 基因区域的新标记

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中的一组异质性肾小球疾病。它通常分为类固醇敏感性和类固醇抗性形式，这取决于患者对类固醇治疗的反应。在所涉及的基因中，已报道 NPHS2 基因是类固醇抗性肾病综合征的致病基因。在本研究中，研究了 NPHS2 基因区域中 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 trios 家族中的 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 Genome Browser、dbSNP 和 SNPper）对数据进行分析。基于结果的统计分析，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 标记等位基因频率，G 和 A 等位基因分别为 55% 和 45%。所检测标记的杂合指数值为 rs2274625 的 5% 和 rs3829795 的 45/8%。因此，通过这两种标记的组合，在 NPHS2 基因区域中鉴定了两种信息单倍型 CG/CA。这些单倍型可以作为识别杂合子携带者和对有患病儿童的伊朗家庭的肾病综合征疾病进行连锁分析的合适工具。对于 rs3829795 标记等位基因，G 和 A 等位基因的频率分别为 55% 和 45%。所检测标记的杂合指数值为 rs2274625 的 5% 和 rs3829795 的 45/8%。因此，通过这两种标记的组合，在 NPHS2 基因区域中鉴定了两种信息单倍型 CG/CA。这些单倍型可以作为识别杂合子携带者和对有患病儿童的伊朗家庭的肾病综合征疾病进行连锁分析的合适工具。对于 rs3829795 标记等位基因频率，G 和 A 等位基因分别为 55% 和 45%。所检测标记的杂合指数值为 rs2274625 的 5% 和 rs3829795 的 45/8%。因此，通过这两种标记的组合，在 NPHS2 基因区域中鉴定了两种信息单倍型 CG/CA。这些单倍型可以作为识别杂合子携带者和对有患病儿童的伊朗家庭的肾病综合征疾病进行连锁分析的合适工具。