Balkan Journal of Medical Genetics

TWO NOVEL CEBPA MUTATIONS IN A TURKISH PATIENT WITH ACUTE MYELOID LEUKEMIA
Tokgun PE, Alay MT, Atli Tekin S, Güler N, Tokgun O, Demiray A, Karagenc N, Durak T, Celik B, Akca H
*Corresponding Author: Professor Hakan Akca, Department of Medical Genetics, School of Medicine, Pamukkale University, Çamlaraltı, Denizli, Turkey 20070. Tel.: +90-258-296-48-04. Fax: +90-258-296- 17-65. E-mail: hakca@pau.edu.tr
page: 99

MATERIALS AND METHODS

Genomic DNA from peripheral blood was prepared by using QIAamp DNA Blood Mini Kit (Qiagen, Hilden, Germany). The polymerase chain reaction (PCR) conditions using the following primers (Table 1) were as follows: initial denaturation at 94 °C for 5 min. followed by 35 cycles at 94 °C for 30 seconds, 58 °C for 30 seconds, 72 °C for 1 min., followed by 5 min. at 72 °C. Sequencing reactions were carried out using BigDye Terminator v 3.1 cycle sequencing kit (Applied Biosystems, Foster City, CA, USA) as follows: an initial denaturation at 96 °C for 1 min., then 25 cycles at 96 °C for 10 seconds, 50 °C for 5 seconds, 60 °C for 4 min., followed by 1 min. at 72 °C. Final purification was acquired using Sephadex. The ABI PRISM® 3130 genetic analyzer (Applied Biosystems) was used for capillary electrophoresis. The all somatic and germline mutations are defined in line with the guidelines of the Human Genome Variation Society (HGVS). Mutations, variations and expressional activities were checked using in silico algorithm based databases as Clinvar (https:// www.ncbi.nlm.nih.gov/clinvar/), MutationTaster (http:// www.mutationtaster.org/), Varsome (https://varsome. com/), dbSNP [a database of single nucleotide polymorphisms (SNP)] (http://ncbi.nlm. nih. gov/snp).

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