biostudies-literatureChen XTechnology innovation project from the Science Technology and Innovation Committee of Shenzhen MunicipalityScience and Technology Project from the Science Technology and Innovation Committee of Shenzhen Municipality315-317https://www.ebi.ac.uk/biostudies/studies/S-EPMC4925552biostudies-literatureUnknown32(Suppl 1)Human glucose-6-phosphate dehydrogenase deficiency (G6PD) is mostly caused by single nucleotide change in the G6PD gene which leads to single amino acid substitution. Previous trials suggested a few samples had decreased ratio of G6PD/6PGD(<1.00) but no mutation detected by multiple methods. In 138 cases of Chinese children with G6PD deficiency, RT-PCR combined with DNA Sequencing was performed to screen the mutations in the coding region and promoter region of G6PD gene. The mutation detection frequency by this method was 100 %, including a novel missense mutation (1088 A>T) and 13 mutations reported before. The novel mutation predicted an Asn-to-Ile substitution at codon 363, which was identified in a male infant patient. The variant caused by this mutation had reduced enzymatic activityIndian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionA Novel A1088T Mutation in the Glucose-6-Phosphate Dehydrogenase Gene Detected by RT-PCR Combined with DNA Sequencing.PMC4925552201201004CXZZ20130320172336579Lv RChen YChen XLiu FWen FfalseA Novel A1088T Mutation in the Glucose-6-Phosphate Dehydrogenase Gene Detected by RT-PCR Combined with DNA Sequencing.Human glucose-6-phosphate dehydrogenase deficiency (G6PD) is mostly caused by single nucleotide change in the G6PD gene which leads to single amino acid substitution. Previous trials suggested a few samples had decreased ratio of G6PD/6PGD(<1.00) but no mutation detected by multiple methods. In 138 cases of Chinese children with G6PD deficiency, RT-PCR combined with DNA Sequencing was performed to screen the mutations in the coding region and promoter region of G6PD gene. The mutation detection frequency by this method was 100 %, including a novel missense mutation (1088 A>T) and 13 mutations reported before. The novel mutation predicted an Asn-to-Ile substitution at codon 363, which was identified in a male infant patient. The variant caused by this mutation had reduced enzymatic activity2016-01-01T00:00:00Z2016 Jun2025-04-22T10:11:20.27Z2019-03-27T02:17:08ZS-EPMC49255522740842310.1007/s12288-016-0645-3