[Identification of G6PD gene variants from Hakka population in Guangdong province].
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.


CONCLUSIONS
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.
Department of Medical Genetics, Zhongshan Medical College, Sun Yat-Sen University, Guangzhou, Guangdong, 510080 P.R.China.
Guo-long
GL
Yu
Wei-ying
WY
Jiang
Chuan-shu
CS
DU
Lu-ming
LM
Chen
Qun-di
QD
Lin
Qiu-hong
QH
Tian
Jing-bo
JB
Zeng
Shu-gang
SG
Li
D044466:Asian People / Q000235:genetics; D002681:China; D004252:DNA Mutational Analysis; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D007438:Introns; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
D005954:Glucosephosphate Dehydrogenase