Genomic imprinting and human chromosome 15
Biol. Res
;
34(2): 141-145, 2001.
Artigo
em Inglês
| LILACS
| ID: lil-303016
ABSTRACT
Genomic imprinting is a reversible phenomenon that affects the expression of genes depending on their parental origin. The best characterized human disorders resulting from an alteration of the imprinting process are Angelman and Prader-Willi syndromes. They are due to the lack of active maternal or paternal genes, respectively, from chromosome region 15q11q13. Most cases arise via interstitial deletions. We review evidence that other common cytogenetic alterations of this region, interstitial and supernumerary duplications, could be the reciprocal products of the deletions and are also affected by the imprinting phenomenon, given the predominance of maternally-derived duplications in patients ascertained due to developmental delays or autistic features.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Síndrome de Prader-Willi
/
Cromossomos Humanos Par 15
/
Síndrome de Angelman
/
Impressão Genômica
Limite:
Humanos
Idioma:
Inglês
Revista:
Biol. Res
Assunto da revista:
Biologia
Ano de publicação:
2001
Tipo de documento:
Artigo
País de afiliação:
Chile
Instituição/País de afiliação:
Pontifícia Universidad de Chile/CL
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