triplet repeat expansion is the gene that is typically mutated in fragile x syndrome.
triplet repeat expansion is the gene that is typically mutated in fragile x syndrome.
what gene is typically mutated in fragile x syndrome?
triplet repeat expansion
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meguid developed a simple molecular screening method to detect premutation carriers of fragile x syndrome. a premutation carrier is an individual who has between 55-200 cgg repeats in the fragile x (fmr1) gene. the full mutation has over 200 cgg repeats. the procedure included a rapid modified polymerase chain reaction (pcr)-based screening tool for expanded fragile x mental retardation 1 (fmr1) alleles. the results showed that 16 males out of 53 males had the cgg abnormal repeats characteristic of fragile x gene. 10 of their mothers and 4 of their sisters also had the fmr1 premutation. 66.6% consanguineous marriages were present in the families studied. it was concluded that fragile x syndrome was ruled out of families with consanguineous parents. instead, fragile x syndrome could be contributed to earlier carrier detection, which may reduce the number of affected children. by isolating the mutation early, the effects of the disease could be reduced in children and in their development.
nagwa abdel meguid