DIAGNOSTIC PROBLEMS OF MUCOVISCIDOSIS AND WAYS OF SOLUTION IN RUSSIA
Mucoviscidosis is a monogenic autosomal recessive caused by the CFTR gene mutations and characterized by pronounced genetic heterogeneity and clinical polymorphism, which emphasizes the need in comprehensive diagnosis and molecular-genetic verification of the final diagnosis. Quality and duration of...
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| Format: | Article |
| Language: | Russian |
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Union of pediatricians of Russia
2014-11-01
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| Series: | Педиатрическая фармакология |
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| Online Access: | https://www.pedpharma.ru/jour/article/view/31 |
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| author | A. A. Baranov N. I. Kapranov N. Yu. Kashirskaya L. S. Namazova-Baranova V. D. Sherman O. I. Simonova A. Yu. Tomilova K. V. Sevost'yanov A. M. Pushkov A. L. Vladykin N. V. Shatokhin |
| author_facet | A. A. Baranov N. I. Kapranov N. Yu. Kashirskaya L. S. Namazova-Baranova V. D. Sherman O. I. Simonova A. Yu. Tomilova K. V. Sevost'yanov A. M. Pushkov A. L. Vladykin N. V. Shatokhin |
| author_sort | A. A. Baranov |
| collection | DOAJ |
| description | Mucoviscidosis is a monogenic autosomal recessive caused by the CFTR gene mutations and characterized by pronounced genetic heterogeneity and clinical polymorphism, which emphasizes the need in comprehensive diagnosis and molecular-genetic verification of the final diagnosis. Quality and duration of a mucoviscidosis patient depend on early diagnosis and timely adequate therapy. The article presents mucoviscidosis diagnostic methods and protocols and capabilities of the modern molecular-genetic pathological diagnosis; a review of DNA diagnostic sets has been performed. As sets of some of the genes typical to the Russian population have not been registered in the Russian Federation, mutations in 20% of the patients cannot be specified. In order to solve this problem it is necessary to develop DNA diagnostic sets specific for the Russian Federation, ensure genetic diagnosis of the disease, including sequencing methods at the expense of the federal budget, increase the amount of information and improve quality of teaching this discipline to students of medial universities and at postgraduate courses for appropriate specialists. |
| format | Article |
| id | doaj-art-1f3392869bb041e986e8b98f6eda98a2 |
| institution | Kabale University |
| issn | 1727-5776 2500-3089 |
| language | Russian |
| publishDate | 2014-11-01 |
| publisher | Union of pediatricians of Russia |
| record_format | Article |
| series | Педиатрическая фармакология |
| spelling | doaj-art-1f3392869bb041e986e8b98f6eda98a22025-08-20T03:36:54ZrusUnion of pediatricians of RussiaПедиатрическая фармакология1727-57762500-30892014-11-01116162310.15690/pf.v11i6.121131DIAGNOSTIC PROBLEMS OF MUCOVISCIDOSIS AND WAYS OF SOLUTION IN RUSSIAA. A. Baranov0N. I. Kapranov1N. Yu. Kashirskaya2L. S. Namazova-Baranova3V. D. Sherman4O. I. Simonova5A. Yu. Tomilova6K. V. Sevost'yanov7A. M. Pushkov8A. L. Vladykin9N. V. Shatokhin10Scientific Center of Children’s Health, Moscow, Russian FederationResearch Center of Medical Genetics of the Russian Academy of Sciences, Moscow, Russian FederationResearch Center of Medical Genetics of the Russian Academy of Sciences, Moscow, Russian FederationScientific Center of Children’s Health, Moscow, Russian FederationResearch Center of Medical Genetics of the Russian Academy of Sciences, Moscow, Russian FederationScientific Center of Children’s Health, Moscow, Russian FederationScientific Center of Children’s Health, Moscow, Russian FederationScientific Center of Children’s Health, Moscow, Russian FederationScientific Center of Children’s Health, Moscow, Russian FederationAbbott Laboratories, Moscow, Russian FederationAbbott Laboratories, Moscow, Russian FederationMucoviscidosis is a monogenic autosomal recessive caused by the CFTR gene mutations and characterized by pronounced genetic heterogeneity and clinical polymorphism, which emphasizes the need in comprehensive diagnosis and molecular-genetic verification of the final diagnosis. Quality and duration of a mucoviscidosis patient depend on early diagnosis and timely adequate therapy. The article presents mucoviscidosis diagnostic methods and protocols and capabilities of the modern molecular-genetic pathological diagnosis; a review of DNA diagnostic sets has been performed. As sets of some of the genes typical to the Russian population have not been registered in the Russian Federation, mutations in 20% of the patients cannot be specified. In order to solve this problem it is necessary to develop DNA diagnostic sets specific for the Russian Federation, ensure genetic diagnosis of the disease, including sequencing methods at the expense of the federal budget, increase the amount of information and improve quality of teaching this discipline to students of medial universities and at postgraduate courses for appropriate specialists.https://www.pedpharma.ru/jour/article/view/31mucoviscidosisdiagnosismolecular-genetic analysissequencingdna diagnostic setsmutationscftrchildren |
| spellingShingle | A. A. Baranov N. I. Kapranov N. Yu. Kashirskaya L. S. Namazova-Baranova V. D. Sherman O. I. Simonova A. Yu. Tomilova K. V. Sevost'yanov A. M. Pushkov A. L. Vladykin N. V. Shatokhin DIAGNOSTIC PROBLEMS OF MUCOVISCIDOSIS AND WAYS OF SOLUTION IN RUSSIA Педиатрическая фармакология mucoviscidosis diagnosis molecular-genetic analysis sequencing dna diagnostic sets mutations cftr children |
| title | DIAGNOSTIC PROBLEMS OF MUCOVISCIDOSIS AND WAYS OF SOLUTION IN RUSSIA |
| title_full | DIAGNOSTIC PROBLEMS OF MUCOVISCIDOSIS AND WAYS OF SOLUTION IN RUSSIA |
| title_fullStr | DIAGNOSTIC PROBLEMS OF MUCOVISCIDOSIS AND WAYS OF SOLUTION IN RUSSIA |
| title_full_unstemmed | DIAGNOSTIC PROBLEMS OF MUCOVISCIDOSIS AND WAYS OF SOLUTION IN RUSSIA |
| title_short | DIAGNOSTIC PROBLEMS OF MUCOVISCIDOSIS AND WAYS OF SOLUTION IN RUSSIA |
| title_sort | diagnostic problems of mucoviscidosis and ways of solution in russia |
| topic | mucoviscidosis diagnosis molecular-genetic analysis sequencing dna diagnostic sets mutations cftr children |
| url | https://www.pedpharma.ru/jour/article/view/31 |
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