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Article

An assay for X inactivation based on differential methylation at the fragile X locus, FMR1.

American journal of medical genetics - 12 Jul 1996

Carrel L, Willard H F

Abstract excerpt

We describe an assay analyzing methylation at the fragile X mental retardation gene, FMR1, to examine patterns of random or non-random X chromosome inactivation. Digestion of genomic DNA with the methylation-sensitive enzyme HpaII cleaves two restriction sites near the CGG repeat of the FMR1 gene if they are unmethylated on the active X chromosome, but fails to digest these sites on the inactive chromosome....

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Identifiers

PMID: 8826444
DOI: 10.1002/(SICI)1096-8628(19960712)64:1<27::AID-AJMG3>3.0.CO;2-O

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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An assay for X inactivation based on differential methylation at the fragile X locus, FMR1.PMID 8826444Read ↗

Epigenetic variation illustrated by DNA methylation patterns of the fragile-X gene FMR1.Semantic proximity Read ↗

Evaluation of the fragile X (FRAXA) syndrome with methylation-sensitive PCR.Semantic proximity Read ↗

FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles.Semantic proximity Read ↗

DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome.Semantic proximity Read ↗

Use of the FMR1 Gene Methylation Status to Assess the X-Chromosome Inactivation Pattern: A Stepwise Analysis.Semantic proximity Read ↗

High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses.Semantic proximity Read ↗

Skewed X inactivation of the normal allele in fully mutated female carriers determines the levels of FMRP in blood and the fragile X phenotype.Semantic proximity Read ↗

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.Semantic proximity Read ↗

Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus.Semantic proximity Read ↗

Methylation-specific multiplex ligation-dependent probe amplification enables a rapid and reliable distinction between male FMR1 premutation and full-mutation alleles.Semantic proximity Read ↗

The X chromosome and fragile X mental retardation.Semantic proximity Read ↗

Fragile-X syndrome and skewed X-chromosome inactivation within a family: a female member with complete inactivation of the functional X chromosome.Semantic proximity Read ↗

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