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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