Detection of the Most Common G6PD Gene Mutations in Chinese Using Amplification Refractory Mutation System

• Published in: Human heredity Vol. 49; no. 3; pp. 133 - 138
• Main Authors: Du, Chuan S., Ren, Xiaoqin, Chen, Luming, Jiang, Weiying, He, Yongshu, Yang, Ming
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland S. Karger AG 01.01.1999
• Subjects: Asian Continental Ancestry Group - genetics; Base Sequence; China - epidemiology; DNA - chemistry; DNA - genetics; DNA Mutational Analysis; Genetic Testing; Glucosephosphate Dehydrogenase - genetics; Glucosephosphate Dehydrogenase Deficiency - enzymology; Glucosephosphate Dehydrogenase Deficiency - epidemiology; Glucosephosphate Dehydrogenase Deficiency - genetics; Humans; Male; Mutation; Original Paper; Point Mutation; Polymerase Chain Reaction - methods; China; Glucose-6-phosphate dehydrogenase deficiency; Amplification refractory mutation system; G6PD gene mutation; G6PD gene
• ISSN: 0001-5652; 1423-0062
• DOI: 10.1159/000022860

Glucose-6-phosphate dehydrogenase (G6PD) is the most common human enzymopathy. 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 representing various regions and ethnic groups in China. Setting up a simple and accurate method for detecting these mutations is not only useful for studying 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 method for detecting these common mutations. The amplification refractory mutation system (ARMS) method was used in this study. Samples from 28 G6PD-deficient males were investigated. The natural and mismatched amplification and restriction enzyme digestion method was used as a standard method to evaluate the nature of the point mutations. Sixteen cases were found carrying the G1388A mutation and 12 the G1376T mutation. Fourteen cases of G1388A and 10 cases of G1376T were confirmed by ARMS. Four cases were not in concordance with the results obtained by the mismatched amplification-restriction enzyme digestion. These 4 cases were then judged by direct PCR sequencing at exon 12. The DNA sequencing data supported the results obtained by ARMS. Thus we concluded that the ARMS is a rapid, simple, inexpensive and accurate method for detecting the most common G6PD gene mutations among the Chinese.