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).



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