[Identification of G6PD mutations in Guangxi by combination of denaturing high performance liquid chromatography, DNA sequencing and restriction endonuclease analysis].
OBJECTIVE
To explore new genotypes of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangxi.


METHODS
G6PD mutations were identified by combination of denaturing high performance liquid chromatography (DHPLC), DNA sequencing and restriction endonuclease assay.


RESULTS
Three cases (10.0%) of G6PD Viangchan (871G-->A, 1311C-->T) and one case (3.3%) of G6PD Union (1360C -->T) were first identified in China mainland. G6PD Ganton (1376G-->T, 30.0%) was the commonest mutation, followed by Kaiping (1388G-->A, 26.7%), and Gaohe (95A-->G, 23.3%).


CONCLUSIONS
Besides G6PD Ganton, Kaiping and Gaohe, there are G6PD Viangchan and Union in Guangxi. G6PD Viangchan and Union is reported for the first time in China mainland.
Department of Pediatrics, First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China.
Jian-Ming
JM
Luo
Mu-Jun
MJ
Li
Xia
X
Tang
Xu
X
Liang
D002681:China; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D004262:DNA Restriction Enzymes; D005260:Female; D005838:Genotype; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D008297:Male
D004262:DNA Restriction Enzymes