DHPLC mutation analysis of phenylketonuria


BRAUTIGAM S., KUJAT A., KIRST P., SEIDEL J., Luleyap H. Ü. , FROSTER U.

MOLECULAR GENETICS AND METABOLISM, cilt.78, ss.205-210, 2003 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 78 Konu: 3
  • Basım Tarihi: 2003
  • Doi Numarası: 10.1016/s1096-7192(02)00228-7
  • Dergi Adı: MOLECULAR GENETICS AND METABOLISM
  • Sayfa Sayıları: ss.205-210

Özet

Denaturing high-performance liquid chromatography (DHPLC) is a sensitive and fast method for the detection of mutations which has been successfully used for mutation screening in several disease-related genes. Phenylketonuria (PKU, OMIM* 261600; McKusick 1986) is one of the most common autosomal recessive disorders in Europe. Mutations in the PAH gene mainly involve point mutations. In this study we report the successful use of DHPLC to analyse rapidly the complete coding sequence of the PAH gene in a total of 125 unrelated patients with PKU. (C) 2003 Elsevier Science (USA). All rights reserved.