Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of α-L-iduronidase mutations causing mucopolysaccharidosis type I

被引:2
|
作者
Kasper, David C. [1 ,2 ]
Iqbal, Furhan [1 ]
Dvorakova, Lenka [3 ,4 ,5 ]
Zeman, Jiri [3 ,4 ,5 ]
Magner, Martin [3 ,4 ,5 ]
Bodamer, Olaf [6 ]
Pollak, Arnold [1 ]
Herkner, Kurt R. [1 ,2 ]
Item, Chike B. [1 ,2 ]
机构
[1] Med Univ Vienna, Dept Pediat & Adolescent Med, Lab Inherited Metab Disorders, A-1090 Vienna, Austria
[2] Med Univ Vienna, Res Core Unit Pediat Biochem & Analyt, A-1090 Vienna, Austria
[3] Charles Univ Prague, Inst Inherited Metab Disorders, Prague, Czech Republic
[4] Charles Univ Prague, Dept Pediat, Fac Med 1, Prague, Czech Republic
[5] Charles Univ Prague, Gen Teaching Hosp, Prague, Czech Republic
[6] Paracelsus Med Univ, Univ Childrens Hosp, Salzburg, Austria
关键词
Mucopolysaccharidosis type I; MPS I; alpha-L-Iduronidase; IDUA; dHPLC; IDENTIFICATION; DISEASE; FREQUENCY;
D O I
10.1016/j.cca.2009.11.027
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
Background: Mutations in the alpha-L-iduronidase A (IDUA) gene cause mucopolysacchariclosis type I (MPS I). a progressive multisystem disorder with features ranging over a continuum from mild to severe which is inherited in an autosomal recessive manner. To date over 100 mutations are known, nonetheless genotype-phenotype prediction is complicated and hampered due to attenuating polymorphisms. rare sequence variants, varied genetic backgrounds and environmental effects. Methods: In this study we report the first development of a denaturating high performance liquid chromatography (dHPLC) protocol for the rapid and accurate detection of recently described mutations in the IDUA gene. Optimal PCR running and dHPLC partial denaturing conditions for mutation detection were established for each PCR amplicon corresponding to 14 IDUA exons and their adjacent intronic/flanking sequences. Results: A total of 12 different mutations, 5 nonsense. 4 missense, 1 deletion, and 2 splice site (intron). in 10 MPS I patients were screened. All mutations revealed a distinct dHPLC pattern thus enabling their accurate detection. Conclusions: A dHPLC screening method was developed for the detection of mutations and sequence variants in the IDUA gene and the results presented in this study revealed that this promising method proved to be robust. automated. economical and above all, highly sensitive. Costs for the detection of mutations causing MPS I disease should be reduced by using this method as a pre-analytical tool followed by sequencing of aberrant heteroduplexforming amplicons. (C) 2009 Elsevier B.V. All rights reserved.
引用
收藏
页码:345 / 350
页数:6
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