ABSTRACT
<p><b>OBJECTIVE</b>To investigate the molecular basis of infantile Alexander disease in a Chinese patient, which may yield useful information for further genetic counseling.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>A 249C>T (R79C) mutation was identified in the exon 1 of the GFAP gene but not in her parents and the controls.</p><p><b>CONCLUSION</b>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.</p>