[Tissue heterogeneity analysis of CGG-repeat mutation in two fragile X affected male fetuses].

doi:10.3760/cma.j.issn.0578-1310.2016.04.012

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Article

[Tissue heterogeneity analysis of CGG-repeat mutation in two fragile X affected male fetuses].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Apr 2016

Huang W, Luo S Y, Du Q, Yang P, Tan H, Wu L Q, Duan R H

Abstract excerpt

OBJECTIVE: To compare the CGG-repeat-length and its methylation status in fetal tissues and to explicate the heterogeneity of CGG repeats. METHOD: Multiple tissues from a full mutation(August 2013) and a mosaic aborted fetus of 23-week gestation(May 2012) were collected and genomic DNA from these tissues was extracted. The CGG-repeat-length and methylation status in fetal tissues were determined by a combined...

Topics

Blotting, Southern
DNA Mutational Analysis
Fetus
Fragile X Mental Retardation Protein
Fragile X Syndrome
Humans
Male
Mutation
Polymerase Chain Reaction
Trinucleotide Repeat Expansion

Source

Open in PubMed

Identifiers

PMID: 27055429
DOI: 10.3760/cma.j.issn.0578-1310.2016.04.012

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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