[Complex mutations of 1311 C-->T in exon 11 and 93 T-->C in intron 11 in G6PD gene].
OBJECTIVE
To investigate the relationship between complex 1311 mutation of C-->T in exon 11 and 93 T-->C in intron 11 of G6PD gene and the G6PD deficiency.


METHODS
Using NBT paper strip method to screen and quantitative NBT method to confirm G6PD deficiency. PCR-SSCP technique was used to find the abnormal exon 11 and the amplification refractory mutation system (ARMS) to identify 1311 mutation, and DNA sequencing to identify the complex mutation at 1311 in exon 11 and 93 in intron 11.


RESULTS
Abnormal band in exon 11 was found in 12 cases. DNA sequencing showed that they were 1311 mutation together with 93 mutation.


CONCLUSIONS
This complex mutation may be the cause of reduced activity of G6PD enzyme.
Yu
Guo-long
GL
Department of Genetics, Medical School of Zhongshan University, Guangzhou 510080, China.
Jiang
Wei-ying
WY
Du
Chuan-shu
CS
Lin
Qun-di
QD
Chen
Lu-ming
LM
Tian
Qiu-hong
QH
Li
Shu-gang
SG
Zeng
Jing-bo
JB
D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005820:Genetic Testing; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational
D005954:Glucosephosphate Dehydrogenase