SDH Subunit Mutation Status in Saliva: Genetic Testing in Patients with Pheochromocytoma
| العنوان: | SDH Subunit Mutation Status in Saliva: Genetic Testing in Patients with Pheochromocytoma |
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| المؤلفون: | M de la Luz Sierra, Paraskevi Xekouki, Thamara E. Osinga, Karen T. Adams, Thera P. Links, Joan Nambuba, Fabio R. Faucz, van der Anouk Horst-Schrivers, Karel Pacak, Ido P. Kema, C. A. Stratakis |
| المساهمون: | Damage and Repair in Cancer Development and Cancer Treatment (DARE), Guided Treatment in Optimal Selected Cancer Patients (GUTS), Lifestyle Medicine (LM) |
| المصدر: | Hormone and Metabolic Research, 48(4), 247-250. GEORG THIEME VERLAG KG |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | Saliva, Pathology, medicine.medical_specialty, SDHB, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Oragene, Molecular Sequence Data, Adrenal Gland Neoplasms, Pheochromocytoma, 030204 cardiovascular system & hematology, Biology, Gene mutation, Biochemistry, SDHx mutations, 03 medical and health sciences, symbols.namesake, paraganglioma, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Humans, Genetic Testing, Sanger sequencing, Base Sequence, Biochemistry (medical), General Medicine, DNA, Exons, DNA extraction, Molecular biology, Succinate Dehydrogenase, genomic DNA, Mutation, symbols, 030211 gastroenterology & hepatology, SDHD |
| الوصف: | Germline mutations occur in up to 30-40% of pheochromocytoma/paraganglioma, with mutations in the succinate dehydrogenase (SDH) subunits B (SDHB) and D (SDHD) being the most common. Blood samples are favored for obtaining high quality DNA, however, leukocytes can also be obtained by collecting saliva. The aim of this study was to determine whether SDHB and SDHD gene mutations in patients with pheochromocytoma/paraganglioma could be determined using a salivary sample. Paired blood and salivary samples were collected from 30 patients: 9 SDHB mutation positive, 13 with a SDHD mutation, and 8 without any SDHx mutations. The Oragene DISCOVER kit was used to collect and extract DNA from saliva. Blood DNA was extracted from EDTA blood samples. The DNA purification and concentration were measured by spectrophotometry. The 8 exons of SDHB and the 4 exons of SDHD were amplified and sequenced by PCR-based bidirectional Sanger sequencing. Total DNA yields from blood DNA were similar to those obtained from saliva DNA [mean (±SD) saliva vs. blood DNA concentration 514.6 (±580.8) ng/µl vs. 360.9 (±262.7) ng/µl; p=0.2)]. The purity of the saliva DNA samples was lower than that of blood [mean OD260/OD280 ratio 1.78 (±0.13) vs. 1.87 (±0.04); p=0.001, respectively], indicating more protein contamination in the saliva-extracted DNA. This study shows that salivary DNA collected from patients with pheochromocytoma/paraganglioma is a good alternative for extraction of genomic DNA for its high DNA concentration and acceptable purity and can be used as an alternative to blood derived DNA in screening for SDHB and SDHD mutations. |
| تدمد: | 1439-4286 0018-5043 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61bfb739c27bf40a26c86bd4c09cffa0 https://pubmed.ncbi.nlm.nih.gov/26916530 |
| Rights: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....61bfb739c27bf40a26c86bd4c09cffa0 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14394286 00185043 |
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