title: Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrome.
abstract: The unstable DNA sequence in the FMR1 gene was analyzed in 85 individuals from Polish families with fragile X syndrome in order to characterize mutations responsible for the disease in Poland. In all affected individuals classified on the basis of clinical features and expression of the fragile site at X(q27.3) a large expansion of the unstable sequence (full mutation) was detected. About 5% (2 of 43) of individuals with full mutation did not express the fragile site. Among normal alleles, ranging in size from 20 to 41 CGG repeats, allele with 29 repeats was the most frequent (37%). Transmission of premutated and fully mutated alleles to the offspring was always associated with size increase. No change in repeat number was found when normal alleles were transmitted.
authors.affiliation: Department of Genetics, Institute of Mother and Child, Warsaw, Poland.
authors.forename: M
authors.initials: M
authors.lastname: Milewski
authors.forename: M
authors.initials: M
authors.lastname: Zygulska
authors.forename: J
authors.initials: J
authors.lastname: Bal
authors.forename: W H
authors.initials: WH
authors.lastname: Deelen
authors.forename: E
authors.initials: E
authors.lastname: Obersztyn
authors.forename: E
authors.initials: E
authors.lastname: Bocian
authors.forename: D J
authors.initials: DJ
authors.lastname: Halley
authors.forename: J
authors.initials: J
authors.lastname: Horst
authors.forename: T
authors.initials: T
authors.lastname: Mazurczak
mesh_terms: D000483:Alleles; D004252:DNA Mutational Analysis; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction; D016601:RNA-Binding Proteins
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human