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PMID: 16532970 Published · ppublish chi

[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 = Zhonghua xueyexue zazhi ·Vol. 26 ·No. 10 ·2009-05-07

Luo Jian-Ming, Li Mu-Jun, Tang Xia, Liang Xu

Abstract

To explore new genotypes of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangxi.,G6PD mutations were identified by combination of denaturing high performance liquid chromatography (DHPLC), DNA sequencing and restriction endonuclease assay.,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%).,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.

Article Info
Journal
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
Abbr.
Zhonghua Xue Ye Xue Za Zhi
ISSN
0253-2727
Published
2009-05-07
Indexed
2006-03-14
Updated
2006-03-14
Language
chi
Country/Region
China
NLM ID
8212398
External Links
PubMed source
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