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[Identification of G6PD gene variants from Hakka population in Guangdong province]
Guo-long Yu1, Wei-ying Jiang, Chuan-shu DU
1Department of Medical Genetics, Zhongshan Medical College, Sun Yat-Sen University, Guangzhou, Guangdong, 510080 P.R.China.
Objective:
Studying on G6PD polymorphism from Hakka population in Guangdong province.
Methods:
Identifying the variants of G6PD gene and determining the frequencies respectively with the use of amplified refractory mutation system(ARMS), polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) and ABI 3100 DNA sequencing technologies.
Results:
Mutations of G6PD gene in cDNA 1388 (G-->A), 1376 (G-->T), 95 (A-->G), 392 (G-->T), 1024 (C-->T), 1311 (C-->T) have been found.
Conclusion:
G6PD cDNA 1388 (G-->A), 1376 (G-->T), 95(A--> G), 392 (G-->T), 1024 (C-->T) and 1311 (C-->T) accompanied with intron 11 (93 T-->C) are the common mutations in Chinese population. cDNA 1388 (G-->A), cDNA 1376 (G-->T) are the most popular G6PD gene variants in Hakka population. In this study, no new type of G6PD gene mutation was found in the Hakkas of Guangdong.
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