title: Analysis of common mutations and associated haplotypes in Chinese patients with glucose-6-phosphate dehydrogenase deficiency.
abstract: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a rare disease in North China. In the present investigation, DNA samples from 17 patients with G6PD deficiency from Tianjin area in North China were studied for the two G6PD common mutations (R459L and R463H) and two single nucleotide polymorphisms (1311C/T and 1365-13T/C) using a dideoxy fingerprinting method. Five patients were positive for mutation R459L, and six patients were positive for mutation R463H. Further haplotype analyses using three flanking dinucleotide repeat polymorphism loci, DXS1123, DXS1113, and F8C(IVS13), were performed on 14 patient families and 16 control Chinese females. The results indicated that the two common mutations were from different haplotypes. Also, the data suggested a possible allelic association between the two G6PD common mutations and the F8C(IVS13) locus and a different allelic distribution for loci DXS1113 and F8C(IVS13) between Chinese and Caucasian populations.
authors.affiliation: Department of Human Genetics, University of Alabama at Birmingham 35294, USA.
authors.forename: P
authors.initials: P
authors.lastname: Li
authors.forename: J N
authors.initials: JN
authors.lastname: Thompson
authors.forename: X
authors.initials: X
authors.lastname: Wang
authors.forename: L
authors.initials: L
authors.lastname: Song
mesh_terms: D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002681:China; D018900:Dinucleotide Repeats; D005260:Female; D005819:Genetic Markers; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000201:enzymology / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D017354:Point Mutation; D011110:Polymorphism, Genetic; D044465:White People / Q000235:genetics
chemical_list: D005819:Genetic Markers; D005954:Glucosephosphate Dehydrogenase