DHPLC mutation analysis of phenylketonuria

被引：18

作者：

Bräutigam, S

Kujat, A

Kirst, P

Seidel, J

Lüleyap, HU

Froster, UG

机构：

[1] Univ Leipzig, Inst Human Genet, D-04103 Leipzig, Germany

[2] Univ Jena, Dept Pediat, D-07740 Jena, Germany

[3] Cukurova Univ, Fac Med, Dept Med Biol & Genet, TR-01330 Balcali, Turkey

来源：

MOLECULAR GENETICS AND METABOLISM | 2003年 / 78卷 / 03期

关键词：

PAH gene; phenylketonuria; mutation analysis; DHPLC;

D O I：

10.1016/S1096-7192(02)00228-7

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：205 / 210

页数：6

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