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基于人群的转钴胺素II Pro259Arg多态性频率差异。

Population-based differences in frequency of the transcobalamin II Pro259Arg polymorphism.

作者信息

Bowen Raffick A R, Wong Betty Y L, Cole David E C

机构信息

Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada M5G 1L5.

出版信息

Clin Biochem. 2004 Feb;37(2):128-33. doi: 10.1016/j.clinbiochem.2003.09.001.

Abstract

OBJECTIVE

A common polymorphism of the transcobalamin II (TC-II) gene, Pro250Arg, has been implicated as a possible genetic factor in population-based differences in vitamin B(12) metabolism. Our objective was to determine whether the prevalence of TC-II Pro259Arg polymorphism differs significantly between Caucasian, Asian and African-American groups.

METHODS

Genomic DNA was available on 187 Caucasians and 43 Asians from the Toronto area, and 51 African-Americans from Northeastern United States. A mutagenically separated PCR method was employed to genotype these groups for the TC-II Pro259Arg polymorphism (776C-->G).

RESULTS

The frequency of the Arg 259 allele varied significantly among the three groups studied (0.439 in Caucasian, 0.558 in Asian and 0.363 in African; P = 0.022). The Asian group had a significantly higher frequency of the Arg 259 allele compared to the Caucasian (P = 0.030) and the African-American group (P = 0.006). The frequency of the Arg 259 allele in the Caucasian and African-American groups was not significantly different (P = 0.103).

CONCLUSION

Population-based differences in TC-II Pro259Arg frequency are significant and could be a contributor to ethnic variation in susceptibility to vitamin B(12) deficiency, a common and persistent problem.

摘要

目的

转钴胺素II(TC-II)基因的一种常见多态性Pro250Arg,被认为可能是维生素B12代谢人群差异的一个遗传因素。我们的目的是确定TC-II Pro259Arg多态性在白种人、亚洲人和非裔美国人组之间的患病率是否存在显著差异。

方法

可获取来自多伦多地区的187名白种人和43名亚洲人的基因组DNA,以及来自美国东北部的51名非裔美国人的基因组DNA。采用诱变分离PCR方法对这些组进行TC-II Pro259Arg多态性(776C→G)基因分型。

结果

在所研究的三组中,Arg 259等位基因频率差异显著(白种人为0.439,亚洲人为0.558,非裔美国人为0.363;P = 0.022)。与白种人组(P = 0.030)和非裔美国人组(P = 0.006)相比,亚洲组的Arg 259等位基因频率显著更高。白种人和非裔美国人组中Arg 259等位基因频率无显著差异(P = 0.103)。

结论

基于人群的TC-II Pro259Arg频率差异显著,可能是维生素B12缺乏易感性种族差异的一个因素,维生素B12缺乏是一个常见且持续存在的问题。

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