Details

Autor(en) / Beteiligte

• DIETRICH, A
• KIOSCHIS, P
• WARREN, S. T
• LEHRACH, H
• POUSTKA, A
• MONACO, A. P
• GROSS, B
• KORN, B
• WILLIAMS, S. V
• SHEER, D
• HEITZ, D
• OBERLE, I
• TONIOLO, D

Titel

Molecular cloning and analysis of the fragile X region in man

Ist Teil von

• Nucleic acids research, 1991-05, Vol.19 (10), p.2567-2572

Ort / Verlag

Oxford: Oxford University Press

Erscheinungsjahr

1991

Quelle

MEDLINE

Beschreibungen/Notizen

• The fragile X syndrome (FraX), the most common inherited form of mental retardation, has been located to Xq27.3. As a step in the molecular analysis of this mutation, we have cloned a contiguous 1.8 Mb region containing the entire fragile X region in YAC and cosmid clones. The cloned area defines a region of 50 kb containing a CpG island, found to be selectively methylated in patients expressing the fragile X phenotype. In this 50kb area we have localised the breakpoints of four somatic cell hybrids selected to break at the position of the fragile site. Fluorescence in-situ hybridisation of cosmids flanking this area shows that the breakpoints, the CpG island and the fragile site coincide.