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Document Type |
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Thesis |
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Document Title |
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The Frequency of Distribution of Calcium Sensing Receptor Gene Polymorphism and The Possible Interactions with Bone Mineral Density, Vitamin D Deficiency and Secondary Hyperparathyroidism التوزيع المتعدد للأشكال العديدة لجين المستقبلات الحسية للكالسيوم والتداخلات المحتملة مع الكثافة المعدنية للعظم ونقص فيتامين د وفرط نشاط الغدة الجار درقية الثانوي |
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Subject |
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Biochemistry department |
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Document Language |
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Arabic |
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Abstract |
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The function of the calcium sensing receptor (CaSR) is to maintain serum calcium concentration within a narrow physiological range. In this study we aim to determine the frequency distribution of CASR rs1801725 (A986S) genotype among adult Saudi males and females and evaluate the effects of the polymorphism with BMD, vitamin D deficiency and secondary hyperparathyroidism.
The study included 113 subjects, 50 males and 63 females. We measured: Ca, PTH, 25-vitamin D, ALP and osteocalcin. Furthermore, we determined a bone densitometry of the lumbar spine (L1-L4) and dual femur using dual energy X ray absorptiometry. We evaluated the CASR rs1801725 polymorphism using PCR-RFLP technique and evaluated the effects of the polymorphism with BMD, vitamin D deficiency and secondary hyperparathyroidism.
The results showed that the genotype frequency was 26% (n=13) normal (AA), and 56% (n=28) heterozygous (AS) and 18% (n=9) homozygous (SS) in males. Allele frequencies for A and S were 54% and 46% respectively. The genotype distribution is within Hardy-Weinberg equilibrium (Goodness of fit X2= 0.80, df =2, P =0.00001). In females 49.21% (n= 31) normal (AA), and 36.51% (n=23) heterozygous (AS), and 14.29% 14.29% (n=9) homozygous (SS). Allele frequencies for A and S were 67.46% and 32.54% respectively. The genotype distribution is within Hardy-Weinberg equilibrium (Goodness of fit X2= 1.78, df= 2, P= 0.07). We found no significant differences in the A986S genotype with BMD, vitamin D deficiency and secondary hyperparathyroidism.
In conclusion, we found no association between CASR rs1801725 (A986S) genotype and BMD, vitamin D deficiency and secondary hyperparathyroidism. |
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Supervisor |
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Dr. Hala Salim Sonbol |
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Thesis Type |
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Master Thesis |
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Publishing Year |
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1434 AH
2013 AD |
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Co-Supervisor |
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Prof. Mohammed Saleh Ardawi |
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Added Date |
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Saturday, June 22, 2013 |
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Researchers
| وفاء فهد العتيبي | Al-Otaibi, Wafa Fahad | Researcher | Master | |
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