[Age dependent and tissue specific FMR-1 gene expression in human organs].

The fragile X syndrome(FRAXA) is the disease characterized by X-linked mental retardation, large ears, behavioral problems and macroorchidism. FMR-1 gene expression and its function in human organs are not fully understood. We studied the age dependent and tissue specific FMR-1 gene expression using human autopsy materials by means of RT-PCR. Total RNAs were extracted from the tissues and RT-PCR were performed to detect FMR-1 gene expression. Semiquantitative analysis were performed and the amount of FMR-1 gene products were compared with PGK gene products. Significant FMR-1 gene expressions were noted in all tissues tested, however cerebrum, cerebellum and testis demonstrated relatively higher FMR-1 transcripts compared with other organs. Relatively high expressions were noticed in all tissues during fetal/infantile periods. Semiquantitative analysis reveals that FMR-1 gene expressed much stronger especially around the perinatal periods. These results suggested that FMR-1 gene is widely expressed in human tissues and may play an important role during human maturation not only in the central nervous systems but also in other organs including liver and kidney.