title: Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site.
abstract: Fragile X [fra (X)] syndrome is a frequently encountered form of mental retardation and is inherited as an X-linked semi-dominant trait with reduced penetrance. We report here the characterization of a highly polymorphic dinucleotide repeat, DXS 548, which is approximately 150 kb proximal to the fra(X) site and the associated FMR-1 gene. DXS 548 is tightly linked to the fra (X) syndrome locus (FRAXA) without recombination (LOD = 9.07 with q of 0) in selected families with crossovers between FRAXA and very closely linked flanking markers. This dinucleotide repeat could be useful in determining the parental origin of a new fra (X) mutations and evaluating the role of FMR-1 in X-linked non-specific mental retardation.
authors.affiliation: Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322.
authors.forename: G J
authors.initials: GJ
authors.lastname: Riggins
authors.forename: S L
authors.initials: SL
authors.lastname: Sherman
authors.forename: B A
authors.initials: BA
authors.lastname: Oostra
authors.forename: J S
authors.initials: JS
authors.lastname: Sutcliffe
authors.forename: D
authors.initials: D
authors.lastname: Feitell
authors.forename: D L
authors.initials: DL
authors.lastname: Nelson
authors.forename: B A
authors.initials: BA
authors.lastname: van Oost
authors.forename: A P
authors.initials: AP
authors.lastname: Smits
authors.forename: F J
authors.initials: FJ
authors.lastname: Ramos
authors.forename: E
authors.initials: E
authors.lastname: Pfendner
mesh_terms: D001483:Base Sequence; D002873:Chromosome Fragility; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D014960:X Chromosome
chemical_list: D004247:DNA