Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.
Biomed Res Int. 2013;2013:390630. doi: 10.1155/2013/390630. Epub 2013 Feb 28.
Haptoglobin, the product of the Hp gene, is a glycoprotein involved in the scavenging of free hemoglobin. Haptoglobin levels increase or decrease in response to various acquired conditions, and they are also influenced by genetic predisposition. There were 2 major alleles, Hp (1) and Hp (2), and 1 minor allele, Hp (del) . Many researchers have attempted to study the haptoglobin types and their association with disease; however, no definitive conclusions have been reached yet. It is reported that patients who are genetically deficient in haptoglobin are at risk of anaphylaxis against blood components containing haptoglobin. Haptoglobin genotypes also affect the reference intervals of haptoglobin levels. Many studies have attempted to establish simple and accurate typing methods. In this paper, we have broadly reviewed several methods for haptoglobin typing-phenotyping, Southern blotting, conventional PCR, real-time PCR, and loop-mediated isothermal amplification. We discuss their characteristics, clinical applications, and limitations. The phenotyping methods are time consuming and labor intensive and not designed to detect patients harboring Hp (del) . The rapid and robust haptoglobin genotyping may help in preventing fatal anaphylactic reactions and in establishing the relationships between the haptoglobin phenotypes and diseases.
触珠蛋白是 Hp 基因的产物,是一种参与清除游离血红蛋白的糖蛋白。触珠蛋白水平会响应各种获得性条件而增加或减少,并且还受到遗传倾向的影响。有 2 个主要等位基因 Hp(1)和 Hp(2),以及 1 个次要等位基因 Hp(del)。许多研究人员试图研究触珠蛋白类型及其与疾病的关系;然而,尚未得出明确的结论。据报道,遗传性触珠蛋白缺乏的患者有对含有触珠蛋白的血液成分发生过敏反应的风险。触珠蛋白基因型也会影响触珠蛋白水平的参考区间。许多研究试图建立简单而准确的分型方法。在本文中,我们广泛回顾了触珠蛋白分型的几种方法——表型分型、Southern 印迹、常规 PCR、实时 PCR 和环介导等温扩增。我们讨论了它们的特点、临床应用和局限性。表型分型方法既费时又费力,并且不能设计用于检测携带 Hp(del)的患者。快速而稳健的触珠蛋白基因分型有助于预防致命的过敏反应,并建立触珠蛋白表型与疾病之间的关系。