Prevalence of glucose-6-phosphate dehydrogenase deficiency and the role of the A- variant in a Saudi population.
PMID 25169987 | DOI 10.1177/0300060514531923 · The Journal of international medical research · 2014 · View on PubMed ↗
OBJECTIVES: To estimate the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency among Saudi men, and to establish the frequency of the two mutations/polymorphisms associated with the G6PD A- mutation--G to A at nucleotide 202 (G202A) and A to G at nucleotide 376 (A376G)--in those found to have G6PD deficiency. METHODS: Blood samples were obtained from healthy male Saudi donors and screened for G6PD deficiency using a fluorescent spot test. Samples from subjects shown to be G6PD deficient and controls were then analysed for the presence of the G202A and A376G mutations on exons 4 and 5, respectively, of the G6PD gene using polymerase chain reaction followed by restriction fragment length polymorphism. RESULT: A total of 2100 male subjects were screened; of these, 100 (4.76%) were shown to be G6PD deficient. The G6PD A- mutation (presence of both G202A and A376G) was observed in two (2%) of the 100 subjects with G6PD deficiency. There was no significant difference in the frequency of this mutation between those with G6PD deficiency and controls. CONCLUSION: The G6PD A- mutation (G202A and A376G) does not appear to have a role in G6PD deficiency in a Saudi population.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | G6PD | “OBJECTIVES: To estimate the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency among Saudi men, and to establish the frequency of the two mutations/polymorphisms associated with the G6PD A- mutation--G to A at nucleotide 202 (G202A) and A to G at nucleotide 376 (A376G)--in those found to have G6PD deficiency.” | 0.98 | hgnc_dict_v1 |
| phenotype | glucose-6-phosphate dehydrogenase deficiency | “Prevalence of glucose-6-phosphate dehydrogenase deficiency and the role of the A- variant in a Saudi population.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Prevalence of glucose-6-phosphate dehydrogenase deficiency and the role of the A- variant in a Saudi population. OBJECTIVES: To estimate the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency among Saudi men, and to establish the frequency of the two mutations/polymorphisms associated with the G6PD A- mutation--G to A at nucleotide 202 (G202A) and A to G at nucleotide 376 (A376G)--in those found to have G6PD deficiency. METHODS: Blood samples were obtained from healthy male Saudi donors and screened for G6PD deficiency using a fluorescent spot test. RESULT: A total of 2100 male subjects were screened; of these, 100 (4.76%) were shown to be G6PD deficient. CONCLUSION: The G6PD A- mutation (G202A and A376G) does not appear to have a role in G6PD deficiency in a Saudi population.” | 0.95 | saudi_context_rules_v1 |
| variant | G202A | “OBJECTIVES: To estimate the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency among Saudi men, and to establish the frequency of the two mutations/polymorphisms associated with the G6PD A- mutation--G to A at nucleotide 202 (G202A) and A to G at nucleotide 376 (A376G)--in those found to have G6PD deficiency.” | 0.82 | literature_variant_regex_v2 |
| variant | A376G | “OBJECTIVES: To estimate the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency among Saudi men, and to establish the frequency of the two mutations/polymorphisms associated with the G6PD A- mutation--G to A at nucleotide 202 (G202A) and A to G at nucleotide 376 (A376G)--in those found to have G6PD deficiency.” | 0.82 | literature_variant_regex_v2 |