Biopolymers and cell. 1998; 14 (1): 5 - 11

Molecular and genetic aspects of fragile X syndrome (Martin-Bell)

S. C. Malyarchuk

Fragile X syndrome (Martin-Bell) is a common cause of mental retardation that is inherited as an X-iinked dominant disorder with reduced penetrance. The incidence of fragile X syndrome is estimated to be approximately one pur 1500 males and one per 2500 females. This review represents the modern data about FMRI gene structure, dynamic mutations caused by expansion of intragenic COG-trinucleolide repeals as well as other types of mutations at that gene.