Lüleyap, Ümit Cukurova University - Faculty of Medicine - Department of Medical Biology and Genetics, Turkey , Pazarcı, Perçin Cukurova University - Faculty of Medicine - Department of Medical Biology and Genetics, Turkey , Cömertpay, Gamze Cukurova University - Faculty of Medicine - Department of Medical Biology and Genetics, Turkey , Önenli, Halise Neslihan Cukurova University - Faculty of Medicine - Department of Pediatric Metabolism and Endocrinology, Turkey , Pazarbaşı, Ayfer Cukurova University - Faculty of Medicine - Department of Medical Biology and Genetics, Turkey , Alptekin, Davut Cukurova University - Faculty of Medicine - Department of Medical Biology and Genetics, Turkey , Kasap, Halil Cukurova University - Faculty of Medicine - Department of Medical Biology and Genetics, Turkey , Froster, Ursula University of Leipzig - Faculty of Medicine, Institute of Human Genetics, Germany

The analysis of the phenylalanine hydroxylase gene mutations by sequencing and ARMS techniques in Turkish patients

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Purpose: Phenylketonuria is an autosomal recessive deficiency of the hepatic enzyme phenylalanine hydroxylase. With this study, detection of the most frequent phenylalanine hydroxylase gene mutations in Turkish population is aimed. Material and Methods: 23 unrelated phenylketonuria patients (46 alleles) who are living in Cukurova region, Turkey were investigated.First, all exons were screened by using DHPLC method then the direct sequencing technique and ARMS methods were used to analyze mutation suspected samples. Results: IVS10-11g→a splicing mutation in 27 alleles (58.7%), R261Q mutation in 7 alleles (15.2%) and E178G, P281L, R243X, R243Q, R408W, Y386C mutations, all in a frequency of 2/46 (4.3%) is found. Conclusion: The arginine amino acid, accounting for 68.4% of changes in exon sites 7 and 12, where R243X, R243Q, R261Q and R408W mutations occur, is thought to be important for amino acid changes in phenylalanine hydroxylase gene among phenylketonuria patients in Çukurova region. Single-base mutations like IVS10-11g→a and P281L could be detected with an accuracy of 100% by the use of specifically designed primers by authors according to ARMS technique and it is relatively cheaper and requesting less technical equipment.

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ARMS , DHPLC , Phenylketonuria , sequencing , Turkish population

Cukurova Medical Journal

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