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. , ...More

MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS, vol.601, pp.39-45, 2006 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 601
  • Publication Date: 2006
  • Doi Number: 10.1016/j.mrfmmm.2006.05.006
  • Title of Journal : MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
  • Page Numbers: pp.39-45

Abstract

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%).