[Glial fibrillary acidic protein mutation in a Chinese girl with infantile Alexander disease].
OBJECTIVE
To investigate the molecular basis of infantile Alexander disease in a Chinese patient, which may yield useful information for further genetic counseling.


METHODS
DNA sequencing analysis and restriction endonuclease analysis were used to detect the mutation of glial fibrillary acidic protein (GFAP) gene in a patient with clinically diagnosed Alexander disease, in her parents and in 50 healthy controls.


RESULTS
A 249C>T (R79C) mutation was identified in the exon 1 of the GFAP gene but not in her parents and the controls.


CONCLUSIONS
The study on mutation of GFAP gene in Chinese patients with Alexander disease has never been reported previously. The mutation analysis of GFAP gene can provide valuable information for the diagnosis of Alexander disease and can serve as a reliable method of prenatal diagnosis for the family.
Ma
Hong-wei
HW
Developmental Pediatrics, Genetic Laboratory, the Second Clinical College, China Medical University, Shenyang, Liaoning, 110004 PR China. mahongwei1960@hotmail.com
Lu
Jun-feng
JF
Jiang
Jun
J
Chen
Li-ying
LY
Niu
Guo-hui
GH
Wu
Bao-min
BM
Kanazawa
Naomi
N
Tsujino
Seiichi
S
D038261:Alexander Disease / Q000175:diagnosis / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics*; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction
D005904:Glial Fibrillary Acidic Protein