Molecular cloning and analysis of the fragile X region in man

Alexander Dietrich; Petra Kioschis; Anthony P. Monaco; Baerbel Gross; Bernhard Korn; Sarah V. Williams; Denise Sheer; Dominique Heitz; Isabel Oberle; Daniela Toniolo; Stephen T. Warren; Hans Lehrach; Annemarie Poustka

Molecular cloning and analysis of the fragile X region in man

Alexander Dietrich, Petra Kioschis, Anthony P. Monaco, Baerbel Gross, Bernhard Korn, Sarah V. Williams, Denise Sheer, Dominique Heitz, Isabel Oberle, Daniela Toniolo, Stephen T. Warren, Hans Lehrach, Annemarie Poustka

IRCCS Ospedale San Raffaele

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	2567-2572
Number of pages	6
Journal	Nucleic Acids Research
Volume	19
Issue number	10
Publication status	Published - May 25 1991

ASJC Scopus subject areas

Genetics
Statistics, Probability and Uncertainty
Applied Mathematics
Health, Toxicology and Mutagenesis
Toxicology
Genetics(clinical)

Cite this

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abstract = "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.",

author = "Alexander Dietrich and Petra Kioschis and Monaco, {Anthony P.} and Baerbel Gross and Bernhard Korn and Williams, {Sarah V.} and Denise Sheer and Dominique Heitz and Isabel Oberle and Daniela Toniolo and Warren, {Stephen T.} and Hans Lehrach and Annemarie Poustka",

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T1 - Molecular cloning and analysis of the fragile X region in man

AU - Dietrich, Alexander

AU - Kioschis, Petra

AU - Monaco, Anthony P.

AU - Gross, Baerbel

AU - Korn, Bernhard

AU - Williams, Sarah V.

AU - Sheer, Denise

AU - Heitz, Dominique

AU - Oberle, Isabel

AU - Toniolo, Daniela

AU - Warren, Stephen T.

AU - Lehrach, Hans

AU - Poustka, Annemarie

PY - 1991/5/25

Y1 - 1991/5/25

N2 - 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.

AB - 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.

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Molecular cloning and analysis of the fragile X region in man

Abstract

ASJC Scopus subject areas

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