Comparison of three methods for genotyping the UGT1A1 (TA)n repeat polymorphism
Comparison of three methods for genotyping the UGT1A1 (TA)n repeat polymorphism
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DOI：
10.1016/j.clinbiochem.2007.03.007
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发表时间：
2007-06-01
影响因子：
2.8
通讯作者：
O'Kane, Dennis J.
中科院分区：
文献类型：
--
作者：
Baudhuin, Linnea M.;Highsmith, W. Edward;O'Kane, Dennis J.
目的：UGT 1A 1基因启动子区存在（TA）（n）重复多态性。7重复等位基因与酶活性降低相关，该等位基因纯合子患者接受伊立替康治疗时可能发生危及生命的毒性。在这里，我们比较了三种方法[DNA测序，片段分析，和入侵（R）测定（第三波技术）]的基因分型polymorphis.Results：所有的DNA样本（n = 119）之间的测序和基于大小的方法有一致的基因型调用。如果基因型为6/6、6/7或7/7，则Invader（R）方法也是一致的。基于大小的方法和Invader（R）方法都具有直接的数据分析，而测序结果的解释偶尔更具挑战性。Invader（R）方法需要更浓缩的DNA用于分析，更昂贵，并且具有有限的基因分型spectrum.Conclusion：所有三种方法对于UGT 1A 1（TA）（n）重复的基因分型都是有价值的，测序和基于大小的测定具有最少的缺点。C 2007年加拿大临床化学家协会。爱思唯尔公司出版All rights reserved.
Objectives: The UGT1A1 promoter contains a (TA)(n) repeat polymorphism. The 7 repeat allele is associated with decreased enzyme activity and patients homozygous for this allele treated with irinotecan may experience life-threatening toxicity. Here, we have compared three methods [DNA sequencing, fragment analysis, and the Invader (R) assay (Third Wave Technologies)] for genotyping this polymorphism.Results: All of the DNA samples (n = 119) had concordant genotype calls between the sequencing and size-based methods. The Invader (R) method was also concordant if the genotypes were 6/6, 6/7, or 7/7. Both the size-based method and the Invader (R) method had straightforward data analysis, while interpretation of the sequencing results was occasionally more challenging. The Invader (R) method required more concentrated DNA for analysis, was more expensive, and had a limited genotyping spectrum.Conclusion: All three methods were valuable for genotyping the UGT1A1 (TA)(n) repeat, with the sequencing and size-based assays having the fewest drawbacks. C 2007 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.