A C {r_arrow} T transition at nucleotide 592 accounts for the most frequent mutation of G6PD gene in Taiwanese aboriginal Ami tribe: detection by mutagenically separated PCR (MS-PCR)

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest known enzymopathy in Taiwan. It is estimated to affect 3% of our population, and its molecular defects have been characterized recently. There are 9 point mutations identified with a C {r_arrow} T substitution at nucleotide (nt) 592 in exon VI, the least frequently seen (0.8%) of all mutations. To characterize mutations of the G6PD gene in the Ami people, the most populous of Taiwanese minorities, we studied 21 G6PD-deficient Ami infants and their family members. Natural and amplification-created restriction sites were generated by PCR technique with 10 pairs of primers applied for the screening. By studying the first 7 cases, we found an identical C {r_arrow} T transition at nt 592. MS-PCR was then designed to rapidly detect the nt 592 mutation. As a result, 17 infants are disclosed as having the C {r_arrow} T transition at nt 592, and 2 have a G {r_arrow} T substitution at nt 1376, which were finally verified to be derived from a Chinese Min-Nan ancestor. The genetic defect of the remaining 2 infants remains unidentified. This study has shown that MS-PCR is a feasible and highly sensitive technique for screening mutation carriers in pooled DNA samples.more » The homogeneity of the nt 592 mutation in the Ami people has proved to be a good indicator for anthropological research.« less