The importance of arginine mutation for the evolutionary structure and function of phenylalanine hydroxylase gene

Luleyap, HÜSNÜ; Alptekin, DAVUT; Pazarbasi, AYFER; Kasap, Mulkiye; Kasap, HALİL; Demirhindi, HAKAN; Mungan, Neslihan; Ozer, Guler; Froster, Ursula

doi:10.1016/j.mrfmmm.2006.05.006

The importance of arginine mutation for the evolutionary structure and function of phenylalanine hydroxylase gene

Luleyap H. U., Alptekin D., Pazarbasi A., Kasap M., Kasap H., Demirhindi H., ...Daha Fazla

MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS, cilt.601, ss.39-45, 2006 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 601
Basım Tarihi: 2006
Doi Numarası: 10.1016/j.mrfmmm.2006.05.006
Dergi Adı: MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.39-45
Çukurova Üniversitesi Adresli: Evet

Özet

Phenylalanine hydroxylase (PAH) gene mutations were investigated in 23 (46 alleles) unrelated phenylketonuria (PKU) patients in Cukurova region. First, all exons of PAH gene were screened by denaturing high performance liquid chromatography (DHPLC), and then, the suspicious samples were analyzed by direct sequencing technique. Consequently, the following results were obtained: IVS 10-11g -> a splicing mutation in 27/46 (58.7%), R261Q mutation in 7/46 (15.2%) and E178G, R243X, R243Q, P281L, Y386C, R408W mutations, each found in the frequency of 2/46 (4.3%).