title: G6PD NanKang (517 T-->C; 173 Phe-->Leu): a new Chinese G6PD variant associated with neonatal jaundice.
abstract: Using a non-radioactive PCR-SSCP technique, we identified a novel glucose-6-phosphate dehydrogenase (G6PD) mutation in a Chinese newborn with neonatal jaundice. This new variant (G6PD NanKang) causes a T to C change at nucleotide position 517, producing a Phe173Leu substitution in the human G6PD protein. Since the 517 mutation does not create or remove any known restriction site, we introduced an artificially created site by adding a primer containing a mismatched base to the PCR reaction mixture. The mismatched base accompanying the nearby 517 T-->C mutation generates an XhoI site which is suitable for distinguishing normal from mutant alleles. Using this approach, the 517 mutation can be diagnosed quickly at the DNA level.
authors.affiliation: Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan, ROC.
authors.forename: H L
authors.initials: HL
authors.lastname: Chen
authors.forename: M J
authors.initials: MJ
authors.lastname: Huang
authors.forename: C S
authors.initials: CS
authors.lastname: Huang
authors.forename: T K
authors.initials: TK
authors.lastname: Tang
mesh_terms: D005312:Fetal Blood; D014644:Genetic Variation / Q000235:genetics; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications* / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000209:etiology*; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D005954:Glucosephosphate Dehydrogenase