Rapid Molecular Diagnosis of Genetic Diseases by High Resolution Melting Analysis: Fabry and Glycogen Storage 1A Diseases
| Autor: | Robert J. Desnick, Yoruk Divanoglu, Sitkiye Bahceci, Murat Polat, Fatih Süheyl Ezgü, Alev Hasanoglu |
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| Rok vydání: | 2014 |
| Předmět: |
Male
Genetics Heterozygote Mutant Mutation Missense General Medicine Glycogen Storage Disease Type I Amplicon Biology medicine.disease Polymorphism Single Nucleotide Fabry disease Molecular biology High Resolution Melt Case-Control Studies Mutation (genetic algorithm) medicine Fabry Disease Humans Glycogen storage disease Missense mutation Female Pathology Molecular Genotyping Genetics (clinical) |
| Zdroj: | Genetic Testing and Molecular Biomarkers. 18:3-7 |
| ISSN: | 1945-0257 1945-0265 |
| DOI: | 10.1089/gtmb.2013.0371 |
| Popis: | For inborn errors of metabolism, high resolution melting analysis (HRMA) is a rapid, efficient, simple, and inexpensive method for mutation/rare variant screening. HRMA is a recent molecular technique for genotyping single-nucleotide polymorphisms without using probes. Here we apply HRMA to the alpha-galactosidase a (GLA) and glucose-6-phosphatase-alpha (G6PC) genes for mutation detection of patients with Fabry disease (MIM 301500) and glycogen storage disease type 1A (GSD1A; MIM 232200), respectively. To evaluate the procedure, genomic DNAs were blindly tested for known GLA mutations (c.658C>T, c. 679C>T, c.772G>A, c.796G>A, or c.718-719delAA) in three affected males and two obligate heterozygotes with Fabry disease, a G6PC mutation (c.247C>T) in a patient homozygous for that lesion, and 10 healthy control Turkish individuals. HRMA clearly detected the mutant amplicons and discriminated them from all wild-type GLA or G6PC amplicons. HRMA proved to be a sensitive, specific, and cost-effective mutation screening method for the rapid molecular diagnosis of these inborn errors of metabolism, indicating that the technique can be readily adapted to other genetic diseases. |
| Databáze: | OpenAIRE |
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