title: Chromosomal findings and sequence analysis of target exons of calcium-sensingreceptor (CaSR) gene in patients with Sagliker syndrome.
abstract: 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.
  
  
  
  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.
  
  
  
  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.
  
  
  
  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.
authors.affiliation: Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, Adana, Turkey.
authors.forename: Erdal
authors.initials: E
authors.lastname: Tunç
authors.affiliation: Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, Adana, Turkey.
authors.forename: Osman
authors.initials: O
authors.lastname: Demirhan
authors.affiliation: Department of Internal Medicine, Faculty of Medicine, Çukurova University, Adana, Turkey.
authors.forename: Yahya
authors.initials: Y
authors.lastname: Sağliker
authors.affiliation: Private Megapark Hospital, Kahramanmaraş, Turkey.
authors.forename: İsmail
authors.initials: İ
authors.lastname: Yildiz
authors.affiliation: Department of Internal Medicine, Faculty of Medicine, Çukurova University, Adana, Turkey.
authors.forename: Nuray
authors.initials: N
authors.lastname: Paylar
authors.affiliation: Department of Medical Biology and Genetics, Faculty of Medicine, Recep Tayyip Erdoğan University, Rize, Turkey.
authors.forename: Ali İrfan
authors.initials: Aİ
authors.lastname: Güzel
mesh_terms: D016022:Case-Control Studies; D002869:Chromosome Aberrations; D020732:Cytogenetic Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D006962:Hyperparathyroidism, Secondary / Q000235:genetics*; D008297:Male; D044169:Receptors, Calcium-Sensing / Q000235:genetics*; D051436:Renal Insufficiency, Chronic / Q000235:genetics*; D013577:Syndrome; D014421:Turkey
chemical_list: D044169:Receptors, Calcium-Sensing