Identification of G6PD mutations in Guangxi by combination of denaturing high performance liquid chromatography, DNA sequencing and restriction endonuclease analysis / 中华血液学杂志
Chinese Journal of Hematology
;
(12): 607-611, 2005.
Article
in Chinese
| WPRIM
| ID: wpr-255833
ABSTRACT
<p><b>OBJECTIVE</b>To explore new genotypes of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangxi.</p><p><b>METHODS</b>G6PD mutations were identified by combination of denaturing high performance liquid chromatography (DHPLC), DNA sequencing and restriction endonuclease assay.</p><p><b>RESULTS</b>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%).</p><p><b>CONCLUSION</b>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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
DNA Mutational Analysis
/
DNA Restriction Enzymes
/
China
/
Chromatography, High Pressure Liquid
/
Genetics
/
Genotype
/
Glucosephosphate Dehydrogenase Deficiency
Type of study:
Diagnostic study
Limits:
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Hematology
Year:
2005
Type:
Article
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