期刊
CLINICA CHIMICA ACTA
卷 321, 期 1-2, 页码 43-47出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/S0009-8981(02)00098-0
关键词
glucose-6-phosphate dehydrogenase deficiency amplification refractory mutation system; PCR amplification; G6PD Mediterranean mutation
Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X chromosome-linked hereditary enzymopathy in humans. The authors have developed an amplification refractory mutation system (ARMS) to detect the G6PD Mediterranean mutation (nt. 563 C --> T) that is the most frequent among Caucasian population. Methods: Specific forward polymerase chain reaction (PCR) primers, within exon 6 of the G6PD gene, were designed: ARMS M complementary to the mutated DNA sequence and ARMS N complementary to the wild-type DNA. They were paired with a common reverse primer, The new method was validated using known DNA samples from 72 G6PD-deficient patients carrying the G6PD Mediterranean mutation ascertained by the restriction enzyme analysis. The ARMS test was per-formed on DNA extracted both from blood or saliva samples. Results: The ARMS test showed an excellent reproducibility and a complete concordance with the endonuclease cleavage reference method. At the same time, it is more rapid and less expensive. Conclusions: The described molecular test may be a method of choice to identify the G6PD Mediterranean mutation. It could also be helpful to obtain a definite diagnosis of G6PD Mediterranean heterozygotes, which is not feasible by using red blood cell enzyme activity measurements. (C) 2002 Elsevier Science B.V. All rights reserved.
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