[Glucose-6-phosphate dehydrogenase mutations among Cantonese revealed by polymerase chain reaction using dried blood spots].
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.


CONCLUSIONS
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.
Neonatal Screening Centre, Guangzhou Maternal and Neonatal Hospital, Guangzhou 510180.
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Tang
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Ma
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Song
D000328:Adult; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008403:Mass Screening; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods
D005954:Glucosephosphate Dehydrogenase