Detection of the most common G6PD gene mutations in Chinese using amplification refractory mutation system

Glucose-6-phosphate dehydrogenase (G6PD) is the most common human enzymopat hy. To date more than 122 mutations in the G6PD gene have been discovered, among which 12 point mutations are found in the Chinese. The 2 most common mutations, G1388A and G1376T, account for more than 50% of mutations repres enting various regions and ethnic groups in China. Setting up a simple and accurate method for detecting these mutations is not only useful for studyi ng the frequency of the G6PD genotypes, but also for finding new mutations. The purpose of this study was to find a simple, inexpensive and accurate m ethod for detecting these common mutations. The amplification refractory mu tation system (ARMS) method was used in this study. Samples from 28 GGPD-de ficient males were investigated. The natural and mismatched amplification a nd restriction enzyme digestion method was used as a standard method to eva luate the nature of the point mutations. Sixteen cases were found carrying the G1388A mutation and 12 the G1376T mutation. Fourteen cases of G1388A an d 10 cases of G1376T were confirmed by ARMS. Four cases were not in concord ance with the results obtained by the mismatched amplification-restriction enzyme digestion. These 4 cases were then judged by direct PCR sequencing a t exon 12. The DNA sequencing data supported the results obtained by ARMS. Thus we concluded that the ARMS is a rapid, simple, inexpensive and accurat e method for detecting the most com mon G6PD gene mutations among the Chine se.