Clinical Application of Long-Read Sequencing for FMR1 Gene Mutation Detection in Populations From Shandong, China.

Abstract excerpt

BACKGROUND: Fragile X syndrome (FXS) is a common inherited intellectual disability. In this study, long-read sequencing was used for the FMR1 gene detection. METHODS: Men with familial inherited intellectual disability and women with indications for FXS screening were defined as high-risk populations and were included in this study along with non-high-risk reproductive-aged women. PCR-capillary electrophoresis...

Topics

• Humans
• Fragile X Messenger Ribonucleoprotein 1
• Female
• Fragile X Syndrome
• China
• Mutation
• Male