Chromosomal findings and sequence analysis of target exons of calcium-sensing receptor (CaSR) gene in patients with Sagliker syndrome
| العنوان: | Chromosomal findings and sequence analysis of target exons of calcium-sensing receptor (CaSR) gene in patients with Sagliker syndrome |
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| المؤلفون: | N. Paylar, Osman Demirhan, Erdal Tunç, Ismail Yildiz, Ali İrfan Güzel, Yahya Sağliker |
| المساهمون: | RTEÜ, Tıp Fakültesi, Temel Tıp Bilimleri Bölümü, Güzel, Ali İrfan, Çukurova Üniversitesi |
| المصدر: | Volume: 47, Issue: 1 13-21 Turkish Journal of Medical Sciences |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | 0301 basic medicine, Male, medicine.medical_specialty, Turkey, Sequence analysis, 030232 urology & nephrology, Bioinformatics, 03 medical and health sciences, Exon, 0302 clinical medicine, Chronic kidney disease, Sagliker syndrome,CaSR gene,chromosomal abnormalities,chronic kidney disease,nucleotide alterations, Genetic predisposition, Medicine, Humans, Genetic Predisposition to Disease, Renal Insufficiency, Chronic, Cerrahi, Calcium metabolism, Chromosome Aberrations, business.industry, Chromosomal abnormalities, Cytogenetics, Chromosome, General Medicine, Exons, Syndrome, Nucleotide alterations, medicine.disease, 030104 developmental biology, Case-Control Studies, Cytogenetic Analysis, Cancer research, Secondary hyperparathyroidism, Female, Hyperparathyroidism, Secondary, Sagliker syndrome, CaSR gene, business, Receptors, Calcium-Sensing, Kidney disease |
| الوصف: | Background/aim: Sagliker syndrome (SS) develops as a continuation of chronic kidney disease and secondary hyperparathyroidism conditions. It was thought that there are some genetic predisposition factors leading to SS. The calcium-sensing receptor (CaSR) is essential for calcium homeostasis in the body. We aimed to examine SS patients for chromosome aberrations (CAs) and CaSR gene abnormalities in exons 2 and 3. Materials and methods: Twenty-three patients and 23 control subjects were admitted to Balcalı Hospital of the Medical Faculty of Çukurova University in Turkey between 2009 and 2011. Chromosomal analysis was performed according to standard cytogenetic methods. Full sequencing of exons 2 and 3 of the CaSR gene was done. Results: We found base alterations and deletions in exons 2 and 3 of the CaSR gene. We also found a statistically significant increase in the rate of CAs in patients compared to controls. In total we evaluated 639 metaphase plaques in 23 patients and found 241 CAs, of which 88% were structural and 12% were numerical abnormalities. Conclusion: There is no relation between the etiology of SS and nucleotide alterations that we could find in exons 2 and 3 of the CaSR gene. Our data suggest that there may be a correlation between CAs and the progression of SS. Background/aim: Sagliker syndrome (SS) develops as a continuation of chronic kidney disease and secondary hyperparathyroidism conditions. It was thought that there are some genetic predisposition factors leading to SS. The calcium-sensing receptor (CaSR) is essential for calcium homeostasis in the body. We aimed to examine SS patients for chromosome aberrations (CAs) and CaSR gene abnormalities in exons 2 and 3. Materials and methods: Twenty-three patients and 23 control subjects were admitted to Balcalı Hospital of the Medical Faculty of Çukurova University in Turkey between 2009 and 2011. Chromosomal analysis was performed according to standard cytogenetic methods. Full sequencing of exons 2 and 3 of the CaSR gene was done. Results: We found base alterations and deletions in exons 2 and 3 of the CaSR gene. We also found a statistically significant increase in the rate of CAs in patients compared to controls. In total we evaluated 639 metaphase plaques in 23 patients and found 241 CAs, of which 88% were structural and 12% were numerical abnormalities. Conclusion: There is no relation between the etiology of SS and nucleotide alterations that we could find in exons 2 and 3 of the CaSR gene. Our data suggest that there may be a correlation between CAs and the progression of SS. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1300-0144 1303-6165 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cae2e934d3d1ff72c2dd593eadfc2248 https://hdl.handle.net/11436/4923 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....cae2e934d3d1ff72c2dd593eadfc2248 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 13000144 13036165 |
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