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An NsiI RFLP in the human long QT intronic transcript 1 (LIT1) (2000)

Higashimoto, K. ; Soejima, H. ; Yatsuki, H. ; [et al.]

Springer

Journal of human genetics 45 (2000), S. 96-97

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ISSN: 1435-232X

Keywords: Key words Imprinting ; 11p15.5 ; NsiI RFLP ; LIT1

Source: Springer Online Journal Archives 1860-2000

Topics: Biology , Medicine

Notes: 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.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/s100380050020

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