title: Molecular characterization of Chinese G6PD deficiency by using polymerase chain reaction/single strand conformation polymorphism.
abstract: Using the polymerase chain reaction/single strand conformation polymorphism (PCR/SSCP), we studied the molecular characterization of 97 (86 male and 11 female) glucose-6-phosphate dehydrogenase (G6PD) deficient Chinese newborn babies and infants in southern Taiwan. Movement shifts were clearly seen in exon 2, 5, 6 and 12, respectively. No movement shift was seen in exon 9. Mutation confirmations were followed by direct sequencing. Using this approach we identified the molecular defect in 90 of the 97 above samples. Our results show a total of seven variants, the most common being at nucleotide (nt) 1376 mutation G-->T 42.3% (41/97) and at nt 1388 mutation G-->A 34.0% (33/97). The other mutation sites were at nucleotide 95 A--G (5.2%), nucleotide 392 G-->T (4.1%), nucleotide 493 A-->G (3.1%) and two new variants with mutation at nucleotide 371 A-->G (2.1%) and nucleotide 519 C-->G (2.1%). Still 7.2% (7/97) remained unidentified. There was no significant difference in G6PD activity among the different mutations. Simple and fast, PCR/SSCP may be suitable for molecular screening for G6PD deficiency in Chinese and other people.
authors.affiliation: Department of Laboratory Medicine, Kaohsiung Medical College Hospital, Taiwan, Republic of China.
authors.forename: B H
authors.initials: BH
authors.lastname: Chen
authors.forename: S R
authors.initials: SR
authors.lastname: Lin
authors.forename: C H
authors.initials: CH
authors.lastname: Chiang
authors.forename: M C
authors.initials: MC
authors.lastname: Chao
mesh_terms: D005260:Female; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational