Haptoglobin (Hp) is a hemoglobin-binding serum glycoprotein. Some variations in the Hp gene (HP) or Hp-related gene (HPR), including a single-nucleotide polymorphism in intron 2 of HRP, rs2000999, and a complete deletion of the HP gene (HP^del), one of the rare variants of HP, have been reported to correlate with the serum cholesterol concentration as well as the serum Hp concentration. In this study, we developed a duplex dual-labeled fluorescence probe-based method to simultaneously determine the rs2000999 G > A polymorphism by melting curve genotyping and the zygosity of HP^del by endpoint genotyping. This method was then validated by using the genomic DNA from 94 Japanese subjects for whom genotypes of rs2000999 and HP^del zygosity had already been determined. The results obtained with this method were in perfect agreement with the previous ones. Thus, the present method enables us to estimate these two polymorphisms in relatively large-scale groups of subjects, especially in Asian populations where the HP^del is distributed.

中文翻译：

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基于双标记荧光探针的熔解曲线和端点基因分型分析，用于 rs2000999 和触珠蛋白基因缺失的基因分型

结合珠蛋白 (Hp) 是一种结合血红蛋白的血清糖蛋白。Hp 基因 ( HP ) 或 Hp 相关基因 ( HPR ) 的一些变异，包括HRP内含子 2 中的单核苷酸多态性，rs2000999，以及HP基因 ( HP ^{de l} ) 的完全缺失，这是一种罕见的据报道， HP的变体与血清胆固醇浓度以及血清 Hp 浓度相关。在这项研究中，我们开发了一种基于双重双标记荧光探针的方法，通过熔解曲线基因分型和HP ^{de l的接合性同时确定 rs2000999 G > A 多态性}通过终点基因分型。然后使用来自 94 名日本受试者的基因组 DNA 验证了该方法，这些受试者的 rs2000999 基因型和HP ^del zygosity已经确定。用这种方法获得的结果与以前的结果完全一致。因此，本方法使我们能够在相对大规模的受试者群体中估计这两种多态性，尤其是在HP ^del分布的亚洲人群中。