Young Cuban Patients with a Clinical and biochemical Diagnosis of Xeroderma Pigmentosum
<strong>Foundation:</strong> skin cancer is a complication of xeroderma pigmentosum; early diagnosis is important. The alkaline comet assay with ultraviolet C radiation and the western blot assay are useful for diagnosis. <br /><strong>Objective:</strong> to evaluate th...
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Universidad de las Ciencias Médicas de Cienfuegos
2024-08-01
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| Online Access: | https://revfinlay.sld.cu/index.php/finlay/article/view/1382 |
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| author | Judith Beatriz Pupo Balboa Mónica Marín García Anamarys Pandolfi Blanco Lucía Fariñas Rodríguez Paulina Araceli Lantigua Cruz |
| author_facet | Judith Beatriz Pupo Balboa Mónica Marín García Anamarys Pandolfi Blanco Lucía Fariñas Rodríguez Paulina Araceli Lantigua Cruz |
| author_sort | Judith Beatriz Pupo Balboa |
| collection | DOAJ |
| description | <strong>Foundation:</strong> skin cancer is a complication of xeroderma pigmentosum; early diagnosis is important. The alkaline comet assay with ultraviolet C radiation and the western blot assay are useful for diagnosis. <br /><strong>Objective:</strong> to evaluate the capacity of deoxyribonucleic acid repair against ultraviolet C radiation and to determine the expression of eta polymerase in Cuban patients. <br /><strong>Methods:</strong> a case series study, including four patients with a presumptive diagnosis of xeroderma pigmentosum, established by a multidisciplinary national medical commission. The capacity of deoxyribonucleic acid repair against ultraviolet C radiation was evaluated by the alkaline comet assay and the expression of eta polymerase was determined by the western blot assay. Peripheral blood lymphocytes were used. <br /><strong>Results:</strong> in two patients, the alkaline comet assay showed a competent repair phenotype (62.3% and 139% respectively). The other two patients had deficient repair, suggesting the presence of one of the classic forms of the disease. In all four patients, expression of eta polymerase was detected by western blot; in the two who had normal repair, the protein band was weak, indicating that they might have the variant of the disease. <br /><strong>Conclusions:</strong> the evaluation of the deoxyribonucleic acid repair phenotype with ultraviolet C radiation and of the expression of eta polymerase in peripheral blood lymphocytes contributes to a precise clinical diagnosis of xeroderma pigmentosum in Cuban patients. |
| format | Article |
| id | doaj-art-4bb41d6653e1422ca3a8b8b6d2ca8b22 |
| institution | Kabale University |
| issn | 2221-2434 |
| language | Spanish |
| publishDate | 2024-08-01 |
| publisher | Universidad de las Ciencias Médicas de Cienfuegos |
| record_format | Article |
| series | Revista Finlay |
| spelling | doaj-art-4bb41d6653e1422ca3a8b8b6d2ca8b222025-01-30T21:22:03ZspaUniversidad de las Ciencias Médicas de CienfuegosRevista Finlay2221-24342024-08-01143288300731Young Cuban Patients with a Clinical and biochemical Diagnosis of Xeroderma PigmentosumJudith Beatriz Pupo Balboa0Mónica Marín García1Anamarys Pandolfi Blanco2Lucía Fariñas Rodríguez3Paulina Araceli Lantigua Cruz4Centro Nacional de Genética Médica. La Habana.Centro Provincial de Genética Médica. Cienfuegos.Centro Nacional de Genética Médica. La Habana.Centro Nacional de Genética Médica. La Habana.Centro Nacional de Genética Médica. La Habana.<strong>Foundation:</strong> skin cancer is a complication of xeroderma pigmentosum; early diagnosis is important. The alkaline comet assay with ultraviolet C radiation and the western blot assay are useful for diagnosis. <br /><strong>Objective:</strong> to evaluate the capacity of deoxyribonucleic acid repair against ultraviolet C radiation and to determine the expression of eta polymerase in Cuban patients. <br /><strong>Methods:</strong> a case series study, including four patients with a presumptive diagnosis of xeroderma pigmentosum, established by a multidisciplinary national medical commission. The capacity of deoxyribonucleic acid repair against ultraviolet C radiation was evaluated by the alkaline comet assay and the expression of eta polymerase was determined by the western blot assay. Peripheral blood lymphocytes were used. <br /><strong>Results:</strong> in two patients, the alkaline comet assay showed a competent repair phenotype (62.3% and 139% respectively). The other two patients had deficient repair, suggesting the presence of one of the classic forms of the disease. In all four patients, expression of eta polymerase was detected by western blot; in the two who had normal repair, the protein band was weak, indicating that they might have the variant of the disease. <br /><strong>Conclusions:</strong> the evaluation of the deoxyribonucleic acid repair phenotype with ultraviolet C radiation and of the expression of eta polymerase in peripheral blood lymphocytes contributes to a precise clinical diagnosis of xeroderma pigmentosum in Cuban patients.https://revfinlay.sld.cu/index.php/finlay/article/view/1382xeroderma pigmentosoreparación de escisión nucleótidaadn polimerasaensayo cometa alcalinowestern blot |
| spellingShingle | Judith Beatriz Pupo Balboa Mónica Marín García Anamarys Pandolfi Blanco Lucía Fariñas Rodríguez Paulina Araceli Lantigua Cruz Young Cuban Patients with a Clinical and biochemical Diagnosis of Xeroderma Pigmentosum Revista Finlay xeroderma pigmentoso reparación de escisión nucleótida adn polimerasa ensayo cometa alcalino western blot |
| title | Young Cuban Patients with a Clinical and biochemical Diagnosis of Xeroderma Pigmentosum |
| title_full | Young Cuban Patients with a Clinical and biochemical Diagnosis of Xeroderma Pigmentosum |
| title_fullStr | Young Cuban Patients with a Clinical and biochemical Diagnosis of Xeroderma Pigmentosum |
| title_full_unstemmed | Young Cuban Patients with a Clinical and biochemical Diagnosis of Xeroderma Pigmentosum |
| title_short | Young Cuban Patients with a Clinical and biochemical Diagnosis of Xeroderma Pigmentosum |
| title_sort | young cuban patients with a clinical and biochemical diagnosis of xeroderma pigmentosum |
| topic | xeroderma pigmentoso reparación de escisión nucleótida adn polimerasa ensayo cometa alcalino western blot |
| url | https://revfinlay.sld.cu/index.php/finlay/article/view/1382 |
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