[Identification of G6PD mutations in Guangxi by combination of denaturing high performance liquid chromatography, DNA sequencing and restriction endonuclease analysis]

Zhonghua Xue Ye Xue Za Zhi. 2005 Oct;26(10):607-11.
[Article in Chinese]

Abstract

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%).

Conclusion: 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.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • China
  • Chromatography, High Pressure Liquid
  • DNA Mutational Analysis
  • DNA Restriction Enzymes
  • Female
  • Genotype*
  • Glucosephosphate Dehydrogenase Deficiency / genetics*
  • Humans
  • Male

Substances

  • DNA Restriction Enzymes