Pediatrics international : official journal of the Japan Pediatric Society · 1999
Molecular basis of glucose-6-phosphate dehydrogenase deficiency among Filipinos.
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Silao C L, Shirakawa T, Nishiyama K, Padilla C, Matsuo M
Аннотация
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.
CONCLUSION: Our results document a C1360T mutation of the G6PD gene in three Filipino patients in the Philippines.
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.
CONCLUSION: Our results document a C1360T mutation of the G6PD gene in three Filipino patients in the Philippines.