{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Chen X"],"funding":["Technology innovation project from the Science Technology and Innovation Committee of Shenzhen Municipality","Science and Technology Project from the Science Technology and Innovation Committee of Shenzhen Municipality"],"pagination":["315-317"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4925552"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["32(Suppl 1)"],"pubmed_abstract":["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 activity"],"journal":["Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion"],"pubmed_title":["A Novel A1088T Mutation in the Glucose-6-Phosphate Dehydrogenase Gene Detected by RT-PCR Combined with DNA Sequencing."],"pmcid":["PMC4925552"],"funding_grant_id":["201201004","CXZZ20130320172336579"],"pubmed_authors":["Lv R","Chen Y","Chen X","Liu F","Wen F"],"additional_accession":[]},"is_claimable":false,"name":"A Novel A1088T Mutation in the Glucose-6-Phosphate Dehydrogenase Gene Detected by RT-PCR Combined with DNA Sequencing.","description":"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 activity","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 Jun","modification":"2025-04-22T10:11:20.27Z","creation":"2019-03-27T02:17:08Z"},"accession":"S-EPMC4925552","cross_references":{"pubmed":["27408423"],"doi":["10.1007/s12288-016-0645-3"]}}