An NsiI RFLP in the human long QT intronic transcript 1 (LIT1).
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.
Higashimoto
K
K
Department of Biochemistry, Saga Medical School, Japan.
Soejima
H
H
Yatsuki
H
H
Katsuki
T
T
Mukai
T
T
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*