BDKRB2 外显子 1 9 个碱基插入/缺失的毛细管电泳基因分型方法
A capillary electrophoresis method for genotyping the 9-bp exon 1 insertion/deletion in BDKRB2.
机构信息
Institute for Pharmacogenomics & Individualized Therapy, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, 1100 Genetic Medicine Building, Campus Box Number 7361, Chapel Hill, NC 27599-7361, USA.
出版信息
Pharmacogenomics. 2012 Feb;13(3):353-8. doi: 10.2217/pgs.11.171.
AIM
To develop and apply a novel genotyping method for the 9-bp exon 1 insertion/deletion polymorphism in BDKRB2.
MATERIALS & METHODS: DNA from 718 patients with heart failure was extracted using standard methods and a region containing exon 1 of BDKRB2 was amplified with PCR. The PCR product was separated using the Qiagen QIAxcel® capillary electrophoresis system. The bp size of the PCR product was calculated and the genotypes determined using Qiagen BioCalculator® software.
RESULTS
Capillary electrophoresis accurately genotyped samples with >99% call rate and 700 s run time per row of a 96-well plate (i.e., less than 1 min per sample). The frequency of the deletion was 49% in the Caucasian patients (n = 441) and 45% in the African-American (n = 277).
CONCLUSION
Capillary electrophoresis is a rapid, accurate and sensitive method for genotyping the 9-bp exon 1 insertion/deletion polymorphism in BDKRB2.
目的
开发并应用一种新型的 BDKRB2 基因第 9 外显子 1 插入/缺失多态性的基因分型方法。
材料与方法
采用标准方法提取 718 例心力衰竭患者的 DNA，采用 PCR 扩增包含 BDKRB2 第 1 外显子的区域。使用 Qiagen QIAxcel®毛细管电泳系统分离 PCR 产物。使用 Qiagen BioCalculator®软件计算 PCR 产物的 bp 大小并确定基因型。
结果
毛细管电泳能够准确地对样本进行基因分型，每个 96 孔板的泳道（即每个样本不到 1 分钟）的等位基因检出率>99%，运行时间为 700 秒。在高加索裔患者（n=441）中，缺失的频率为 49%，在非裔美国人中（n=277）为 45%。
结论
毛细管电泳是一种快速、准确和敏感的方法，可用于对 BDKRB2 基因第 9 外显子 1 插入/缺失多态性进行基因分型。
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