Molecular-cytogenetic investigation of skewed chromosome X inactivation in Rett syndrome.
Brain Dev
; 23 Suppl 1: S214-7, 2001 Dec.
Article
em En
| MEDLINE
| ID: mdl-11738875
ABSTRACT
We have developed an approach to differentiate homologous X chromosomes in metaphase chromosomes and interphase nuclei by a fluorescence in situ hybridization (FISH) technique with chromosome X-specific alpha-satellite DNA probe. FISH analysis of metaphase chromosomes in a cohort of 33 girls with Rett syndrome (RTT) allowed us to detect eight girls with structurally different X chromosomes, one X chromosome with a large and another one with a small centromeric heterochromatin (so-called chromosomal heteromorphism). Step-wise application of differential replication staining and the FISH technique to identify the inactivation status of paternal and maternal chromosome X in RTT girls was applied. Skewed X inactivation in seven RTT girls with preferential inactivation of one X chromosome over the other X chromosome was detected in 62-93% of cells. Therefore, non-random or skewed X inactivation with variable penetrance in blood cells could take place in RTT.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomo X
/
Análise Mutacional de DNA
/
Síndrome de Rett
/
Mecanismo Genético de Compensação de Dose
/
Hibridização in Situ Fluorescente
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Newborn
Idioma:
En
Revista:
Brain Dev
Ano de publicação:
2001
Tipo de documento:
Article
País de afiliação:
Federação Russa