Identification of G6PD gene variants from Hakka population in Guangdong province.
- Author:
Guo-long YU
1
;
Wei-ying JIANG
;
Chuan-shu DU
;
Lu-ming CHEN
;
Qun-di LIN
;
Qiu-hong TIAN
;
Jing-bo ZENG
;
Shu-gang LI
Author Information
- Publication Type:Journal Article
- MeSH: Asian Continental Ancestry Group; genetics; China; DNA Mutational Analysis; Glucosephosphate Dehydrogenase; genetics; Glucosephosphate Dehydrogenase Deficiency; ethnology; genetics; Humans; Introns; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Sequence Analysis, DNA
- From: Chinese Journal of Medical Genetics 2004;21(5):448-451
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVEStudying on G6PD polymorphism from Hakka population in Guangdong province.
METHODSIdentifying 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.
RESULTSMutations 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.
CONCLUSIONG6PD 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.
