Use of the
FMR1 methylation status
HUMARA
X-chromosome inactivation pattern
methylation PCR
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
25 02 2022
25 02 2022
Historique:
received:
31
01
2022
revised:
22
02
2022
accepted:
23
02
2022
entrez:
25
3
2022
pubmed:
26
3
2022
medline:
28
4
2022
Statut:
epublish
Résumé
X-chromosome inactivation (XCI) is a developmental process to compensate the imbalance in the dosage of X-chromosomal genes in females. A skewing of the XCI pattern may suggest a carrier status for an X-linked disease or explain the presence of a severe phenotype. In these cases, it is important to determine the XCI pattern, conventionally using the gold standard Human Androgen-Receptor Assay (HUMARA), based on the analysis of the methylation status at a polymorphic CAG region in the first exon of the human androgen receptor gene (
Identifiants
pubmed: 35327973
pii: genes13030419
doi: 10.3390/genes13030419
pmc: PMC8951761
pii:
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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