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TCN2 776CNG 多态性与健康成年人群维生素 B(12)细胞内递呈相关。

The TCN2 776CNG polymorphism correlates with vitamin B(12) cellular delivery in healthy adult populations.

机构信息

Research Institute for Medicines and Pharmaceutical Sciences, University of Lisbon, Portugal.

出版信息

Clin Biochem. 2010 May;43(7-8):645-9. doi: 10.1016/j.clinbiochem.2010.01.015. Epub 2010 Feb 6.

Abstract

OBJECTIVES

Vitamin B(12), or B(12), is an essential nutrient for humans, and its deficiency is a public health problem, especially in elderly population. Around 30% of circulating total B(12) levels are attached to transcobalamin II (TCN2), being referred as holotranscobalamin (holo-TC), and representing the biologically active fraction. After cellular uptake, B(12) participates in the homocysteine (Hcy) metabolism. The potential influence of the described TCN2 776CNG polymorphism upon B(12) intracellular delivery is a current target of research and we aimed to investigate its biochemical significance upon a healthy adult population.

DESIGN AND METHODS

The TCN2 776CNG polymorphism was screened by PCR-RFLP in 122 individuals. Concentrations of plasma total B(12), holo-TC, total Hcy and folate, as well as red blood cell folate, were determined.

RESULTS AND CONCLUSIONS

The studied polymorphism is common in the Portuguese population and significantly affects holo-TC but neither total B(12) nor total Hcy plasma concentrations, confirming that the TCN2 776CNG genotype exerts a significant influence upon B(12) cellular delivery.

摘要

目的

维生素 B(12),即 B(12),是人类必需的营养物质,其缺乏是一个公共卫生问题,尤其是在老年人群中。大约 30%的循环总 B(12)水平与转钴胺素 II(TCN2)结合,被称为全钴胺素(holo-TC),代表具有生物活性的部分。进入细胞后,B(12)参与同型半胱氨酸(Hcy)代谢。描述的 TCN2 776CNG 多态性对 B(12)细胞内传递的潜在影响是当前研究的目标,我们旨在调查其对健康成年人群的生化意义。

设计和方法

在 122 个人中通过 PCR-RFLP 筛选 TCN2 776CNG 多态性。测定血浆总 B(12)、全钴胺素、总 Hcy 和叶酸以及红细胞叶酸的浓度。

结果与结论

研究中的多态性在葡萄牙人群中很常见,显著影响全钴胺素,但对血浆总 B(12)和总 Hcy 浓度没有影响,证实 TCN2 776CNG 基因型对 B(12)细胞传递有显著影响。

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