焦测序技术及其在遗传分析中的应用

Pyrosequencing and its Application in Genetical Analysis

焦测序技术是一种新的实时DNA测序技术。它在DNA聚合酶、三磷酸腺苷硫酸化酶、荧光素酶和三磷酸腺苷双磷酸酶4种酶的协同作用下,使引物延伸聚合脱氧核糖核酸(dNTP)释放焦磷酸盐(PP i)、PP i转换三磷酸腺苷(ATP)、ATP产生荧光信号与dNTP和ATP的降解等化学反应偶联起来,检测结果准确可靠。本文综述了焦测序技术的基本原理、操作步骤和它在单核苷酸多态性(SNP)研究、微生物的分型鉴定和基因甲基化检测等遗传分析中的应用,并对焦测序技术的发展作了展望。

Pyrosequencing is a new real-time deoxryibonucleia ciad （DNA） sequencing technique. It is a cascade of enzymatic reactions including four kinds of enzymes, polymerase, adenosine rriphosphate （ATP） sulfurylase, luciferase and apyrase, the principle and the operation process of this new technology were desoribed, and also the latest advances of its application in single nucleotide polymorphism （SNP） genotyping, microbial typing and CpG methylation analysis were reported .