[The progress and strategy of molecular diagnosis for human genetic diseases]

Recently, the human genome project has progressed and the responsible genes for many diseases have been discovered. Molecular diagnosis based on gene analysis techniques has developed. In this paper, the methods in molecular diagnosis were explained, taking as examples of several pediatric neurological diseases such as GM1- gangliosidosis, fragile X syndrome and congenital myotonic dystrophy. Next, we stressed the importance of the study on the gene function in related to the gene mutation. Finally the strategy to establish the molecular diagnosis of polygenic diseases, such as mental retardation and autism, was considered.