Molecular basis of glucose-6-phosphate dehydrogenase deficiency among Filipinos.
BACKGROUND
Multiplex polymerase chain reaction (PCR) using multiple tandem forward primers and a common reverse primer (MPTP) was recently established as a comprehensive scanning system for mutations in X-linked recessive diseases. In this report, MPTP was tested to scan for mutations of the glucose-6-phosphate dehydrogenase (G6PD) gene.


METHODS
Mutations in exon 11 of the G6PD gene were screened by MPTP in five unrelated Filipino cases with G6PD deficiency.


RESULTS
Of the five patients, four screened positive for a mutation in the gene. Sequencing of the amplified products confirmed that three cases had a C-->T substitution at nucleotide (n.t.) 1360 (C1360T) resulting in an amino acid change of arginine to cysteine at position 454 and one had a silent single base substitution C-->T at nucleotide 1311.


CONCLUSIONS
Our results document a C1360T mutation of the G6PD gene in three Filipino patients in the Philippines.
Silao
C L
CL
Division of Genetics, Kobe University School of Medicine, Japan.
Shirakawa
T
T
Nishiyama
K
K
Padilla
C
C
Matsuo
M
M
D000595:Amino Acid Sequence; D017931:DNA Primers; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D010679:Philippines; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017421:Sequence Analysis
D017931:DNA Primers; D005954:Glucosephosphate Dehydrogenase