How is fragile X syndrome caused?

summary

Fragile X-chromosome syndrome is an X-linked incomplete exodominant genetic disease. It is named because the end of X-chromosome in the cell can show the fragile part like fracture after treated by mutagen in special medium. How is fragile X syndrome caused? Next, I'd like to share my views with you.

How is fragile X syndrome caused?

Fragile X-chromosome syndrome is an incomplete exodominant X-linked dominant genetic disease. FMR1 is highly expressed in nerve cells and spermatogonia of testis, and has selective RNA binding function.

In gene 5 ´ The abnormal amplification of CGG is the main cause of the syndrome, accounting for 95%. Point mutation or deletion of 1-2 bases in the gene can also cause the syndrome (< 5%).

The expression of fragile X chromosome could be induced by low folic acid and low thymidine medium plus fluorouracil deoxynucleoside and methotrexate. Generally, more than 3% - 5% of the cells expressed fragile X chromosome.

matters needing attention

After diagnosis, the first-degree relatives of the patients should be examined to detect the pre mutation or full mutation carriers, and the offspring should be prevented from getting sick through genetic counseling or prenatal diagnosis. After this kind of disease, we must eat more nutritious food. At the same time, patients must keep a happy mood at ordinary times, and we must ensure enough sleep time every day.