title: An NsiI RFLP in the human long QT intronic transcript 1 (LIT1).
abstract: An NsiI polymorphic site has been found in the human long QT intronic transcript 1 (LIT1). In this transcript, we found a C-to-T transition, which was located between exons 10 and 11 of KVLQT1, and was confirmed by sequencing analysis. The allelic frequency of this polymorphism, was 0.82: 0.18 in Japanese individuals. Our novel polymorphism, combined with other polymorphisms, could be very useful in helping to determine whether the imprinting of LIT1 is disrupted in Beckwith-Wiedemann syndrome (BWS) or in human cancers.
authors.affiliation: Department of Biochemistry, Saga Medical School, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Higashimoto
authors.forename: H
authors.initials: H
authors.lastname: Soejima
authors.forename: H
authors.initials: H
authors.lastname: Yatsuki
authors.forename: T
authors.initials: T
authors.lastname: Katsuki
authors.forename: T
authors.initials: T
authors.lastname: Mukai
mesh_terms: D000483:Alleles; D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11; D018392:Genomic Imprinting; D006801:Humans; D007438:Introns; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*