Ferrie R M, Schwarz M J, Robertson N H, Vaudin S, Super M, Malone G, Little S
Cellmark Diagnostics, Abingdon, Oxfordshire, England.
Am J Hum Genet. 1992 Aug;51(2):251-62.
The amplification refractory mutation system (ARMS) is a simple, rapid and reliable method for the detection of any mutation involving single base changes or small deletions. We have applied ARMS methodology to the detection of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Single ARMS tests have been developed for 11 CFTR mutations found in the northwest of England. ARMS reactions for the most common mutations have been multiplexed to give a test which will detect the presence of the delta F508, G551D, G542X, and 621 + 1G----T mutations in a DNA sample. The multiplex test has been validated by the analysis of over 500 previously genotyped samples and has been found to be completely accurate. The rapid detection of the most common mutations has enabled early molecular confirmation of suspected cystic fibrosis in neonates, rapid typing of cystic fibrosis patients and their relatives, and testing of sperm and egg donors.
扩增阻滞突变系统（ARMS）是一种用于检测任何涉及单碱基变化或小缺失突变的简单、快速且可靠的方法。我们已将ARMS方法应用于囊性纤维化跨膜传导调节因子（CFTR）基因的突变检测。针对在英格兰西北部发现的11种CFTR突变开发了单个ARMS检测。针对最常见突变的ARMS反应已进行多重化处理，以提供一种能检测DNA样本中ΔF508、G551D、G542X和621 + 1G→T突变存在情况的检测方法。通过对500多个先前已进行基因分型的样本进行分析，多重检测已得到验证，且被发现完全准确。对最常见突变的快速检测使得能够对新生儿疑似囊性纤维化进行早期分子确认、对囊性纤维化患者及其亲属进行快速分型以及对精子和卵子捐献者进行检测。
