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• W2081832480 abstract "X chromosome inactivation has been hypothesised to play a role in the aetiology and clinical expression of the fragile X syndrome. The identification of the FMR1 gene involved in fragile X syndrome allows testing of the assumption that the fragile X locus is normally subject to X inactivation. We studied the expression of the FMR1 gene from inactive X chromosomes by reverse transcription of RNA followed by PCR (RT-PCR), both in somatic cell hybrids which retain an active or inactive human X chromosome and in a female patient with a large deletion surrounding the FMR1 gene. In both analyses, the data indicate that FMR1 is not normally expressed from the inactive X chromosome and is, therefore, subject to X chromosome inactivation. This finding is consistent with the results of previous studies of DNA methylation of FMR1 on active and inactive X chromosomes, verifies previous assumptions about the fragile X locus, and supports the involvement of X inactivation in the variable phenotype of females with full mutations of the FMR1 gene." @default.
• W2081832480 created "2016-06-24" @default.
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• W2081832480 date "1995-12-01" @default.
• W2081832480 modified "2023-10-14" @default.
• W2081832480 title "X inactivation of the FMR1 fragile X mental retardation gene." @default.
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• W2081832480 doi "https://doi.org/10.1136/jmg.32.12.925" @default.
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