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[Glucose-6-phosphate dehydrogenase mutations among Cantonese revealed by polymerase chain reaction using dried blood
1Neonatal Screening Centre, Guangzhou Maternal and Neonatal Hospital, Guangzhou 510180.
Objective:
To analyze G6PD gene mutation in 168 Cantonese G6PD deficient male infants.
Methods:
PCR products were amplified directly from dried blood spots on filter paper using 7 pairs of special primers followed by digestion with a restriction enzyme.
Results:
Of the 168 samples, 72(42.8%) were G6PD 1376 G-->T mutation, 35 (20.8%) were G6PD 1388 G-->A, 30(17.9%) were G6PD 95 AG, 6(3.6%) were G6PD 392 G-->T, and 3(1.8%) were G6PD 1024 C-->T. No G6PD 493 A-->G and 487 G-->A mutation were found, and 22(13.1%) were not defined.
Conclusion:
1. The three G6PD mutations at 1376, 1388 and 95 were common in Cantonese. 2. Dried blood spots collected on filter paper provide an easy way of sample collection, storage and transport for the epidemiological study of inherited disease.