[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.
Luo
Jian-Ming
JM
Department of Pediatrics, First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China.
Li
Mu-Jun
MJ
Tang
Xia
X
Liang
Xu
X
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