Identification of G6PD mutations in Guangxi by combination of denaturing high performance liquid chromatography, DNA sequencing and restriction endonuclease analysis.
- Author:
Jian-Ming LUO
1
;
Mu-Jun LI
;
Xia TANG
;
Xu LIANG
Author Information
- Publication Type:Journal Article
- MeSH: China; Chromatography, High Pressure Liquid; DNA Mutational Analysis; DNA Restriction Enzymes; Female; Genotype; Glucosephosphate Dehydrogenase Deficiency; genetics; Humans; Male
- From: Chinese Journal of Hematology 2005;26(10):607-611
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore new genotypes of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangxi.
METHODSG6PD mutations were identified by combination of denaturing high performance liquid chromatography (DHPLC), DNA sequencing and restriction endonuclease assay.
RESULTSThree 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%).
CONCLUSIONBesides 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.
