Glial fibrillary acidic protein mutation in a Chinese girl with infantile Alexander disease.
- Author:
Hong-wei MA
1
;
Jun-feng LU
;
Jun JIANG
;
Li-ying CHEN
;
Guo-hui NIU
;
Bao-min WU
;
Naomi KANAZAWA
;
Seiichi TSUJINO
Author Information
- Publication Type:Case Reports
- MeSH: Alexander Disease; diagnosis; genetics; Base Sequence; Child, Preschool; China; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; Glial Fibrillary Acidic Protein; genetics; Humans; Mutation; Polymerase Chain Reaction
- From: Chinese Journal of Medical Genetics 2005;22(1):79-81
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the molecular basis of infantile Alexander disease in a Chinese patient, which may yield useful information for further genetic counseling.
METHODSDNA 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.
RESULTSA 249C>T (R79C) mutation was identified in the exon 1 of the GFAP gene but not in her parents and the controls.
CONCLUSIONThe 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.
