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Title of Journal: Int J Colorectal Dis

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Abbravation: International Journal of Colorectal Disease

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Springer-Verlag

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DOI

10.1006/exnr.1998.7003

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1432-1262

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DNA variants in the ATM gene are not associated wi

Authors: Annette Torgunrud Kristensen Jens Bjørheim Johan Wiig Karl E Giercksky Per O Ekstrøm
Publish Date: 2003/06/21
Volume: 19, Issue: 1, Pages: 49-54
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Abstract

A large number of DNA singlenucleotide polymorphisms SNPs have been discovered following the Human Genome Project Several projects have been launched to find associations between SNPs and various disease cohorts This study examined the possible association between the reported SNPs and sporadic rectal cancer It has been proposed that SNPs in the ataxitelangiectasia mutated ATM gene modulate the penetrance of some cancers The investigated target sequence harbors three polymorphisms IVS388 T/C in intron 38 5557 G/A and 5558 A/T in exon 39 resulting in eight possible microhaplotypes at the DNA level Furthermore the two exonic SNPs are sited next to each other allowing four possible amino acids in the same codonWe report on a new method analyzing SNPs and microhaplotypes based on theoretical thermodynamics and migration of variant fragments by cycling temperature capillary electrophoresis Fluorophorelabeled PCR products were analyzed without any postPCR steps on a standard 96 capillarysequencing instrument under denaturing conditionsMore than 7000 alleles were microhaplotyped based on peak migration patterns of individual samples and sequencing results The ATM polymorphisms and microhaplotypes examined did not significantly differ between sporadic rectal cancer and normal populationThis work received financial support by the Torsteds Legacy and the Norwegian Cancer Society The authors gratefully acknowledge KarenMarie Heintz for her technical assistance on the MegaBace 1000 and Carrie J MarkowskiGrimsrud for comments on the manuscript

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