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飞行时间质谱法检测干扰素调节因子6单核苷酸多态性的研究

许铭炎 邓小玲 陈锡和 陈庆珊 姚小武 唐世杰

广东牙病防治2011,Vol.19Issue(7):339-342,4.
广东牙病防治2011,Vol.19Issue(7):339-342,4.

飞行时间质谱法检测干扰素调节因子6单核苷酸多态性的研究

Fast and High-throughput Genotyping of SNPs of Cleft Related Gene IRF6 Using MALDI-TOF

许铭炎 1邓小玲 2陈锡和 3陈庆珊 2姚小武 1唐世杰2

作者信息

  • 1. 汕头大学医学院第二附属医院唇腭裂治疗中心,广东,汕头,515041
  • 2. 汕头大学医学院第二附属医院口腔科
  • 3. 汕头大学医学院细胞生物与遗传学教研室
  • 折叠

摘要

Abstract

Objective To establish a high throughput, fast and accurate method for genotyping of SNPs of cleft related gene IRF6. Methods IRF6 gene fragment including rs2235371 and rs642961 was amplified and purified as the template of the following primer extension reaction. The single base extension reaction was carried out using SNP specific extension primer. The products were purified and analyzed by MALDI-TOF. Results The method for fast and high throughput genotyping rs2235371 and rs642961 has been set up. The frequencies of rs2235371 and rs642961 in our 201 unrelated healthy Han Chinese using genotyping by MALDI-TOF are as same as reported frequencies of Han Chinese in HapMap. Conclusion MALDI-TOF is a fast, high throughput and accurate method for genotyping, and is suitable for large sample cleft related genes screening.

关键词

基质辅助激光解吸电离飞行时间质谱技术/干扰素调节因子6/单核苷酸多态性/唇腭裂

Key words

MALDI-TOF-MS/ Interferon regulatory factor 6/ Single nucleotide polymorphisms/ Cleft lip and palate

分类

医药卫生

引用本文复制引用

许铭炎,邓小玲,陈锡和,陈庆珊,姚小武,唐世杰..飞行时间质谱法检测干扰素调节因子6单核苷酸多态性的研究[J].广东牙病防治,2011,19(7):339-342,4.

基金项目

"重生行动-全国贫困家庭唇腭裂儿童手术康复计划"项目 ()

广东牙病防治

1006-5245

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