Chromosomal findings and sequence analysis of target exons of calcium-sensing receptor (CaSR) gene in patients with Sagliker syndrome

被引:6
作者
Tunc, Erdal [1 ]
Demirhan, Osman [1 ]
Sagliker, Yahya [2 ]
Yildiz, Ismail [3 ]
Paylar, Nuray [2 ]
Guzel, Ali Irfan [4 ]
机构
[1] Cukurova Univ, Dept Med Biol & Genet, Fac Med, Adana, Turkey
[2] Cukurova Univ, Dept Internal Med, Fac Med, Adana, Turkey
[3] Private Megapk Hosp, Kahramanmaras, Turkey
[4] Recep Tayyip Erdogan Univ, Dept Med Biol & Genet, Fac Med, Rize, Turkey
关键词
Sagliker syndrome; CaSR gene; chromosomal abnormalities; chronic kidney disease; nucleotide alterations; CHRONIC KIDNEY-DISEASE; HUMAN FACE APPEARANCE; SEVERE SECONDARY HYPERPARATHYROIDISM; IN-SITU HYBRIDIZATION; CHRONIC-RENAL-FAILURE; FAMILIAL HYPOCALCIURIC HYPERCALCEMIA; NEONATAL SEVERE HYPERPARATHYROIDISM; MESSENGER-RIBONUCLEIC-ACID; CA2+-SENSING RECEPTOR; JUVENILE NEPHRONOPHTHISIS;
D O I
10.3906/sag-1507-102
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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 Balcali Hospital of the Medical Faculty of epsilon ukurova 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.
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页码:13 / 21
页数:9
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