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.
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Received: September 13, 1999 / Accepted: November 4, 1999
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Higashimoto, K., Soejima, H., Yatsuki, H. et al. An NsiI RFLP in the human long QT intronic transcript 1 (LIT1). J Hum Genet 45, 96–97 (2000). https://doi.org/10.1007/s100380050020
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DOI: https://doi.org/10.1007/s100380050020
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