Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island.
Science
; 251(4998): 1236-9, 1991 Mar 08.
Article
em En
| MEDLINE
| ID: mdl-2006411
ABSTRACT
Yeast artificial chromosomes (YACs) were obtained from a 550-kilobase region that contains three probes previously mapped as very close to the locus of the fragile X syndrome. These YACs spanned the fragile site in Xq27.3 as shown by fluorescent in situ hybridization. An internal 200-kilobase segment contained four chromosomal breakpoints generated by induction of fragile X expression. A single CpG island was identified in the cloned region between markers DXS463 and DXS465 that appears methylated in mentally retarded fragile X males, but not in nonexpressing male carriers of the mutation nor in normal males. This CpG island may indicate the presence of a gene involved in the clinical phenotype of the syndrome.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomo X
/
Fosfatos de Dinucleosídeos
/
Síndrome do Cromossomo X Frágil
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
/
Male
Idioma:
En
Ano de publicação:
1991
Tipo de documento:
Article