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Old 11-09-2011
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Default Fragile X

i wonder if anyone can explain the premutations and mutations in this syndrome?
and can we consider it X-linked dominant??
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Old 11-09-2011
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Not sure what you are asking but Fragile X is X-linked Dominant. It involves FMR-1 (Familial Mental Retardation-1) gene due to extensive methylation caused by trinucleotide repeats interfering with the expression on the gene.
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Old 11-09-2011
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Its a X linked..reason of mutation is triple repeat codons expansion..CGG...both male & feamle can have it..bt with females only mild mental retardation while with males.. mental retardation, enlarged testes & facial abnormalities..
There are 4 diseases with triple repeat condons..Huntingtond Disease, Myotonic Dystropy, Fragile X Syndrome & Friedrich Ataxia..
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Old 11-09-2011
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fragile X could skip generations
and when the woman has a premutation which means CGG repeats not too long but still longer than normal ,,this female can transmit this premutation as a mutation to her kids
but if the man has a premutaion ,he won't transmit mutations to his kids rather will transmit a premutaion to his kids..
i wonder if i explained anything
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