Journal ArticleDOI
Fragile X genotype characterized by an unstable region of DNA
S. Yu,M. Pritchard,Eric J. Kremer,Michael Lynch,J.K. Nancarrow,Elizabeth Baker,K. Holman,John C. Mulley,Stephen T. Warren,David Schlessinger,G. R. Sutherland,Robert I. Richards +11 more
TLDR
This probe provides a means with which to analyze fragile X pedigrees and is a diagnostic reagent for the fragile X genotype.Abstract:
DNA sequences have been located at the fragile X site by in situ hybridization and by the mapping of breakpoints in two somatic cell hybrids that were constructed to break at the fragile site. These hybrids were found to have breakpoints in a common 5-kilobase Eco RI restriction fragment. When this fragment was used as a probe on the chromosomal DNA of normal and fragile X genotype individuals, alterations in the mobility of the sequences detected by the probe were found only in fragile X genotype DNA. These sequences were of an increased size in all fragile X individuals and varied within families, indicating that the region was unstable. This probe provides a means with which to analyze fragile X pedigrees region was unstable. This probe provides a means with which to analyze fragile X pedigrees and is a diagnostic reagent for the fragile X genotyperead more
Citations
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sources and effects of ionizing radiation
TL;DR: This annex is aimed at providing a sound basis for conclusions regarding the number of significant radiation accidents that have occurred, the corresponding levels of radiation exposures and numbers of deaths and injuries, and the general trends for various practices, in the context of the Committee's overall evaluations of the levels and effects of exposure to ionizing radiation.
Journal ArticleDOI
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
Annemiske J.M.H. Verkerk,Maura Pieretti,James S. Sutcliffe,Ying-Hui Fu,Derek P.A. Kuhl,Antonio Pizzuti,Orly Reiner,Stephen Richards,Maureen F. Victoria,Fuping Zhang,Bert Eussen,Gert-Jan B. van Ommen,Lau Blonden,Gregory J. Riggins,Jane L. Chastain,Catherine B. Kunst,Hans Galjaard,C. Thomas Caskey,David L. Nelson,Ben A. Oostra,Stephen T. Warren +20 more
TL;DR: A fragile X site-induced breakpoint cluster region that exhibits length variation in fragile X chromosomes is identified and localization of the brain-expressed FMR-1 gene to this EcoRI fragment suggests the involvement of this gene in the phenotypic expression of the fragile X syndrome.
Journal ArticleDOI
Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
J. David Brook,Mila E. McCurrach,H G Harley,Alan Buckler,Deanna M. Church,Hiroyuki Aburatani,Kent W. Hunter,Vincent P. Stanton,Jean Paul Thirion,Thomas J. Hudson,Robert L. Sohn,Boris V. Zemelman,Russell G. Snell,S A Rundle,Steve Crow,June Davies,Peggy Shelbourne,Jessica L. Buxton,Clare Jones,Vesa Juvonen,Keith J. Johnson,Peter S. Harper,D.J. Shaw,David E. Housman +23 more
TL;DR: Using positional cloning strategies, this work has identified a CTG triplet repeat that undergoes expansion in myotonic dystrophy patients and PCR analysis of the interval containing this repeat indicates that unaffected individuals have been 5 and 27 copies.
Journal ArticleDOI
Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.
Ying-Hui Fu,Derek P.A. Kuhl,Antonio Pizzuti,Maura Pieretti,James S. Sutcliffe,James S. Sutcliffe,Stephen Richards,Annemieke J.M.H. Verkert,Jeanette J. A. Holden,Raymond G. Fenwick,Stephen T. Warren,Stephen T. Warren,Ben A. Oostra,David L. Nelson,C. Thomas Caskey +14 more
TL;DR: The risk of expansion during oogenesis to the full mutation associated with mental retardation increases with the number of repeats, and this variation in risk accounts for the Sherman paradox.
Journal ArticleDOI
Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene
Mani S. Mahadevan,Catherine Tsilfidis,Luc A. Sabourin,G Shutler,Chris T. Amemiya,G Jansen,Catherine E. Neville,Monica Narang,Juana Barceló,K O'Hoy +9 more
TL;DR: Increases in the size of the allele in patients with DM are now shown to be due to an increased number of trinucleotide CTG repeats in the 3' untranslated region of a DM candidate gene.
References
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Journal ArticleDOI
Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources.
David L. Nelson,Susan A. Ledbetter,L Corbo,M F Victoria,Ramiro Ramirez-Solis,T D Webster,David H. Ledbetter,Charles T. Caskey +7 more
TL;DR: The polymerase chain reaction is applied to direct amplification of human DNA from hybrid cells containing regions of the human genome in rodent cell backgrounds using primers directed to the human Alu repeat element, allowing rapid gene mapping and providing a simple method for the isolation and analysis of specific chromosomal regions.
Journal ArticleDOI
Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis
TL;DR: To detect rearrangements, or methylation changes that may reflect a locally inactive X chromosome, pulsed-field gel analysis of DNA from fragile-X patients with probes close to the fragile- X locus was used.
Journal ArticleDOI
Isolation of the human chromosomal band Xq28 within somatic cell hybrids by fragile X site breakage.
Stephen T. Warren,Samantha J. L. Knight,Jeanne F. Peters,Carol L. Stayton,G. Giacomo Consalez,Fuping Zhang +5 more
TL;DR: These somatic cell hybrids, containing Xq27.3-qter as the sole human DNA, will aid the search for DNA associated with the fragile X site and will augment the high resolution genomic analysis of Xq28, including the identification of candidate genes for genetic-disease loci mapping to this region.
Journal Article
Isolation of a human DNA sequence which spans the fragile X.
Eric J. Kremer,S. Yu,M. Pritchard,Ramaiah Nagaraja,D. Heitz,Michael Lynch,Elizabeth Baker,V. J. Hyland,Randall D. Little,Morimasa Wada,Daniela Toniolo,A. Vincent,François Rousseau,David Schlessinger,G. R. Sutherland,Robert I. Richards +15 more
TL;DR: This work has isolated and partly characterized a YAC containing approximately 270 kb of human DNA from an X chromosome which expresses the fragile X, which may enable the fragile site to be fully characterized at the molecular level and the pathogenetic basis of the fragile-X syndrome to be determined.
Journal Article
Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers.
TL;DR: Two highly polymorphic microsatellite AC repeat sequences, VK23AC and VK14AC, which are closely linked to the fragile X at Xq27.3 are described and applicable to diagnosis by linkage in families with fragile X syndrome are described.
Related Papers (5)
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
Annemiske J.M.H. Verkerk,Maura Pieretti,James S. Sutcliffe,Ying-Hui Fu,Derek P.A. Kuhl,Antonio Pizzuti,Orly Reiner,Stephen Richards,Maureen F. Victoria,Fuping Zhang,Bert Eussen,Gert-Jan B. van Ommen,Lau Blonden,Gregory J. Riggins,Jane L. Chastain,Catherine B. Kunst,Hans Galjaard,C. Thomas Caskey,David L. Nelson,Ben A. Oostra,Stephen T. Warren +20 more