Balkan Journal of Medical Genetics

A NOVEL SPLICE-SITE MUTATION ON THE MLC1 GENE LEADING TO EXON 9 SKIPPING AND MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS IN A TURKISH PATIENT
Türkyılmaz A1,*, Ünver O2, Ekinci G3, Türkdoğan D2
*Corresponding Author: Ayberk Türkyılmaz, M.D., Department of Medical Genetics, Marmara University School of Medicine, Fevzi Çakmak Quarter Muhsin Yazıcıoğlu Street No. 10 Üst Kaynarca, Pendik, İstanbul, Turkey. Tel: +90-505-812-0334. Fax: +90-216-625-4545. E-mail: ayberkturkyilmaz@gmail.com
page: 89

MOLECULAR GENETIC STUDIES

All experimental procedures were conducted in accordance with the recommendations of the Ethics Committee of Marmara University, İstanbul, Turkey, and informed written consent was obtained from parents. DNA was isolated from leucocytes. All coding exons and exon-intron boundaries of the MLC1 gene were sequenced using the MiSeq system (Illumina, Inc, San Diego, CA, USA). Total mRNA was isolated using the Qiagen RNeasy Mini Kit (Qiagen GmbH, Hilden, Germany) and reverse-transcribed using the QuantiTect Reverse Transcription Kit (Qiagen GmbH) following the manufacturer’s protocol. The cDNA amplification of the MLC1 gene was examined using the following primers: forward (5’-CAA CAT TCT GGA CGA AGT GCC AT-3’) and reverse (5’-CAG CCT TGC ACT GAC CTT GA-3’). All amplified products were purified directly and sequencing reaction was accomplished in an ABI PRISM® 3130xl genetic analyzer (Applied Biosystems, Foster City, CA, USA).

Number 27 VOL. 27 (2), 2024	Number 27 VOL. 27 (1), 2024
Number 26 Number 26 VOL. 26(2), 2023 All in one	Number 26 VOL. 26(2), 2023
Number 26 VOL. 26, 2023 Supplement	Number 26 VOL. 26(1), 2023
Number 25 VOL. 25(2), 2022	Number 25 VOL. 25 (1), 2022
Number 24 VOL. 24(2), 2021	Number 24 VOL. 24(1), 2021
Number 23 VOL. 23(2), 2020	Number 22 VOL. 22(2), 2019
Number 22 VOL. 22(1), 2019	Number 22 VOL. 22, 2019 Supplement
Number 21 VOL. 21(2), 2018	Number 21 VOL. 21 (1), 2018
Number 21 VOL. 21, 2018 Supplement	Number 20 VOL. 20 (2), 2017
Number 20 VOL. 20 (1), 2017	Number 19 VOL. 19 (2), 2016
Number 19 VOL. 19 (1), 2016	Number 18 VOL. 18 (2), 2015
Number 18 VOL. 18 (1), 2015	Number 17 VOL. 17 (2), 2014
Number 17 VOL. 17 (1), 2014	Number 16 VOL. 16 (2), 2013
Number 16 VOL. 16 (1), 2013	Number 15 VOL. 15 (2), 2012
Number 15 VOL. 15, 2012 Supplement	Number 15 Vol. 15 (1), 2012
Number 14 14 - Vol. 14 (2), 2011	Number 14 The 9th Balkan Congress of Medical Genetics
Number 14 14 - Vol. 14 (1), 2011	Number 13 Vol. 13 (2), 2010
Number 13 Vol.13 (1), 2010	Number 12 Vol.12 (2), 2009
Number 12 Vol.12 (1), 2009	Number 11 Vol.11 (2),2008
Number 11 Vol.11 (1),2008	Number 10 Vol.10 (2), 2007
Number 10 10 (1),2007	Number 9 1&2, 2006
Number 9 3&4, 2006	Number 8 1&2, 2005
Number 8 3&4, 2004	Number 7 1&2, 2004
Number 6 3&4, 2003	Number 6 1&2, 2003
Number 5 3&4, 2002	Number 5 1&2, 2002
Number 4 Vol.3 (4), 2000	Number 4 Vol.2 (4), 1999
Number 4 Vol.1 (4), 1998	Number 4 3&4, 2001
Number 4 1&2, 2001	Number 3 Vol.3 (3), 2000
Number 3 Vol.2 (3), 1999	Number 3 Vol.1 (3), 1998
Number 2 Vol.3(2), 2000	Number 2 Vol.1 (2), 1998
Number 2 Vol.2 (2), 1999	Number 1 Vol.3 (1), 2000
Number 1 Vol.2 (1), 1999	Number 1 Vol.1 (1), 1998

About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact