Gene analysis using LightCycler 480 system for the hot spot of one large family with photosensitive absence and myoclonic epilepsy
Abstract number :
1.102
Submission category :
11. Human Genetics
Year :
2011
Submission ID :
14516
Source :
www.aesnet.org
Presentation date :
12/2/2011 12:00:00 AM
Published date :
Oct 4, 2011, 07:57 AM
Authors :
M. Tanaka, P. Cossette, J. N. Bailey, D. Bai, R. Duron, A. V. Delgado-Escueta
Rationale: We identified the hot spot on chr.10q11.23 by whole genome scan with 440 microsatellites in one large family ascertained through a proband with photosensitive absence and myoclonic epilepsy (four generations with 50 members of which 13 were clinically affected). The segregated hot spot was narrowed within 1 cM by SNPs markers.Methods: Quantitative PCR of genomic DNA copy number and mutational screening in this region has been performed on a LightCycler 480 (Roche Applied Science), using the Roche SYBR green kit or High resolution Melting kit. Results: Two exons in CHAT and two exons in SGMS1 which localize on chr10q11.23 did not show new variants. Conclusions: We identified a candidate gene in the region of chr.10q11.23 which we will discuss during the meeting. Ongoing analysis will provide further proof for the new gene of photosensitive epilepsy.
Genetics