fragile-x-screening

Fragile-X Screening

Genetic Analysis of FRAXA for Fragile-X Syndrome 

Know About FRAXA Mutation.

Fragile X syndrome (FXS) is the most common cause of inherited X-linked mental retardation in males. It is inherited in X-linked recessive pattern. Genes2Me offers Postnatal/Carrier Screening for Fragile-X Syndrome through PCR method.

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FXS is caused by trinucleotide repeat expansion of CGG (FRAXA) sequences in the 5’ untranslated region of FMR1 (Fragile X mental retardation 1) gene.

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Individuals with normal <45 (CGG repeats) or intermediate 45-54 (CGG repeats) FMR1 alleles are asymptomatic for disorder associated with FMR1.

CGG repeats with 55-200 length are associated with pre-mutation carrier and repeat length 200 or more are associated with full mutation in FXS.

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