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Science 8 March 1991:
Vol. 251. no. 4998, pp. 1236 - 1239
DOI: 10.1126/science.2006411
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Articles
Science, Vol 251, Issue 4998, 1236-1239
Copyright © 1991 by American Association for the Advancement of Science
Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island
D Heitz,
F Rousseau,
D Devys,
S Saccone,
H Abderrahim,
D Le Paslier,
D Cohen,
A Vincent,
D Toniolo,
G Della Valle,
and
al. et
Laboratoire de Genetique Moleculaire des Eucaryotes du CNRS, Institut de Chimie Biologique, Faculte de Medecine, Strasbourg, France.
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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