Progress in molecular diagnosis of fragile X syndrome.
10.3760/cma.j.issn.1003-9406.2012.03.011
- Author:
Xiao-yan GUO
1
;
Juan LIAO
;
Feng-hua LAN
Author Information
1. Department of Clinical Genetics and Experimental Medicine, Fuzhou General Hospital, Fuzhou, Fujian 350025, P. R. China.
- Publication Type:Journal Article
- MeSH:
Fragile X Mental Retardation Protein;
genetics;
Fragile X Syndrome;
diagnosis;
genetics;
Humans;
Pathology, Molecular;
methods
- From:
Chinese Journal of Medical Genetics
2012;29(3):296-299
- CountryChina
- Language:Chinese
-
Abstract:
Fragile X mental retardation 1 is the gene underlying fragile X syndrome (FXS). Its product, fragile X mental retardation protein, is closely involved with development of brain and neurons. PCR and Southern blotting have been the major methods for laboratory diagnosis of FXS. In this article, the progress in the molecular diagnosis of FXS is reviewed.
