Multicapillary electrophoresis analysis of single-nucleotide sequence variations in the deoxycytidine kinase gene

Background: Investigation of the genetic background of complex traits is the focus of recent interest, as several common diseases or the individual response to treatments of various illnesses have not yet been explored. These studies require the development and implementation of reliable and large-scale genotyping methods. In this report, we introduce an efficient technique based on PCR-restriction fragment length sequence variation technique for the analysis of the -360CG and -201CT single-nucleotide sequence variations in the deoxycytidine kinase gene. Methods: A multicapillary gel electrophoresis instrument was used for the size determination of the generated DNA fragments. A healthy Hungarian population of 100 individuals was investigated to determine allele and genotype frequencies for the 2 sequence variations of interest. Results: We found that the occurrence of the minor allele is rather low, i.e., the frequency of both the -360G and -201T variants is 1%. Conclusions: Our technique can readily facilitate the analysis of these important sequence variations in other ethnic groups to clarify the role of these sequence variations in conjunction with arabinosylcytosine treatment in acute myeloid leukemia. (c) 2006 American Association for Clinical Chemistry.