THE SEARCH FOR GENE MUTATIONS AT CYSTIC FIBROSIS IN CHILDREN BY THE METHOD OF HIGH-RESOLUTION MELTING ANALYSIS
High-resolution melting analysis (HRMA) is promising for preliminary scanning of the nucleotide sequence of the cystic fibrosis transmembrane conductance regulator gene ( CFTR ), which mutations are responsible for the development of cystic fibrosis. In Russia this method has not yet found practical...
| Main Authors: | , |
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| Format: | Article |
| Language: | Russian |
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Russian Academy of Sciences, Siberian Branch Publishing House
2019-02-01
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| Series: | Сибирский научный медицинский журнал |
| Subjects: | |
| Online Access: | https://sibmed.elpub.ru/jour/article/view/20 |
| _version_ | 1797269575340916736 |
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| author | M. Y. Donnikov V. V. Meshcheryakov |
| author_facet | M. Y. Donnikov V. V. Meshcheryakov |
| author_sort | M. Y. Donnikov |
| collection | DOAJ |
| description | High-resolution melting analysis (HRMA) is promising for preliminary scanning of the nucleotide sequence of the cystic fibrosis transmembrane conductance regulator gene ( CFTR ), which mutations are responsible for the development of cystic fibrosis. In Russia this method has not yet found practical application. The aim of this work was the analysis of the efficiency of the HRMA method at the first stage of molecular diagnostics of cystic fibrosis in children. Materials and methods. In order to validate the new technique for extended molecular genetic analysis we examined 43 control DNA samples obtained from children with confirmed cystic fibrosis diagnosis and known CFTR mutations. Results. The specificity of cystic fibrosis molecular diagnostics with the implementation of the HRMA method was 100 %, the sensitivity was 97.3 %. In two samples with extended heterozygous deletion of the 2nd and 3rd exons melting patterns were identical to the wild type ones. Conclusions. The high efficiency of the HRMA method proves the possibility of its usefulness in clinical practice at the first stage of cystic fibrosis molecular diagnostics in children toward the reduction of the diagnostic search duration. In most cases this method allows to determine CFTR gene mutation type. Long deletions/insertions and complex heterozygous restructurings still cannot be detected using HRMA. Multiplex ligation-dependent probe amplification is required to determine this mutation type. |
| first_indexed | 2024-03-08T14:34:45Z |
| format | Article |
| id | doaj.art-13ed0dcde6ba46319d530ecc1e77cffc |
| institution | Directory Open Access Journal |
| issn | 2410-2512 2410-2520 |
| language | Russian |
| last_indexed | 2024-04-25T01:50:33Z |
| publishDate | 2019-02-01 |
| publisher | Russian Academy of Sciences, Siberian Branch Publishing House |
| record_format | Article |
| series | Сибирский научный медицинский журнал |
| spelling | doaj.art-13ed0dcde6ba46319d530ecc1e77cffc2024-03-07T18:49:56ZrusRussian Academy of Sciences, Siberian Branch Publishing HouseСибирский научный медицинский журнал2410-25122410-25202019-02-01382132110.15372/SSMJ2018020220THE SEARCH FOR GENE MUTATIONS AT CYSTIC FIBROSIS IN CHILDREN BY THE METHOD OF HIGH-RESOLUTION MELTING ANALYSISM. Y. Donnikov0V. V. Meshcheryakov1Surgut State UniversitySurgut State UniversityHigh-resolution melting analysis (HRMA) is promising for preliminary scanning of the nucleotide sequence of the cystic fibrosis transmembrane conductance regulator gene ( CFTR ), which mutations are responsible for the development of cystic fibrosis. In Russia this method has not yet found practical application. The aim of this work was the analysis of the efficiency of the HRMA method at the first stage of molecular diagnostics of cystic fibrosis in children. Materials and methods. In order to validate the new technique for extended molecular genetic analysis we examined 43 control DNA samples obtained from children with confirmed cystic fibrosis diagnosis and known CFTR mutations. Results. The specificity of cystic fibrosis molecular diagnostics with the implementation of the HRMA method was 100 %, the sensitivity was 97.3 %. In two samples with extended heterozygous deletion of the 2nd and 3rd exons melting patterns were identical to the wild type ones. Conclusions. The high efficiency of the HRMA method proves the possibility of its usefulness in clinical practice at the first stage of cystic fibrosis molecular diagnostics in children toward the reduction of the diagnostic search duration. In most cases this method allows to determine CFTR gene mutation type. Long deletions/insertions and complex heterozygous restructurings still cannot be detected using HRMA. Multiplex ligation-dependent probe amplification is required to determine this mutation type.https://sibmed.elpub.ru/jour/article/view/20молекулярная диагностикаанализ кривых плавления высокого разрешениямуковисцидоздети |
| spellingShingle | M. Y. Donnikov V. V. Meshcheryakov THE SEARCH FOR GENE MUTATIONS AT CYSTIC FIBROSIS IN CHILDREN BY THE METHOD OF HIGH-RESOLUTION MELTING ANALYSIS Сибирский научный медицинский журнал молекулярная диагностика анализ кривых плавления высокого разрешения муковисцидоз дети |
| title | THE SEARCH FOR GENE MUTATIONS AT CYSTIC FIBROSIS IN CHILDREN BY THE METHOD OF HIGH-RESOLUTION MELTING ANALYSIS |
| title_full | THE SEARCH FOR GENE MUTATIONS AT CYSTIC FIBROSIS IN CHILDREN BY THE METHOD OF HIGH-RESOLUTION MELTING ANALYSIS |
| title_fullStr | THE SEARCH FOR GENE MUTATIONS AT CYSTIC FIBROSIS IN CHILDREN BY THE METHOD OF HIGH-RESOLUTION MELTING ANALYSIS |
| title_full_unstemmed | THE SEARCH FOR GENE MUTATIONS AT CYSTIC FIBROSIS IN CHILDREN BY THE METHOD OF HIGH-RESOLUTION MELTING ANALYSIS |
| title_short | THE SEARCH FOR GENE MUTATIONS AT CYSTIC FIBROSIS IN CHILDREN BY THE METHOD OF HIGH-RESOLUTION MELTING ANALYSIS |
| title_sort | search for gene mutations at cystic fibrosis in children by the method of high resolution melting analysis |
| topic | молекулярная диагностика анализ кривых плавления высокого разрешения муковисцидоз дети |
| url | https://sibmed.elpub.ru/jour/article/view/20 |
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