Association of vitamin D receptor gene Apa I polymorphism with vitamin D deficiency rickets
OBJECTIVE: To study the association between vitamin D receptor (VDR) gene Apa I polymorphism and vitamin D deficiency rickets in children of Shanxi Han ethnic group, and to explore the significance of individual hereditary factors in the development of rickets
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 43(2005), 7 vom: 08. Juli, Seite 514-6 |
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| 1. Verfasser: | |
| Weitere Verfasser: | , , , |
| Format: | Aufsatz |
| Sprache: | Chinese |
| Veröffentlicht: |
2005
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| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics |
| Schlagworte: | English Abstract Journal Article Research Support, Non-U.S. Gov't Receptors, Calcitriol Calcitriol FXC9231JVH Calcifediol P6YZ13C99Q |
| Zusammenfassung: | OBJECTIVE: To study the association between vitamin D receptor (VDR) gene Apa I polymorphism and vitamin D deficiency rickets in children of Shanxi Han ethnic group, and to explore the significance of individual hereditary factors in the development of rickets METHODS: This was a case control study. The grouping criteria were serum 25(OH)D(3) level, blood bone alkaline phosphatase and clinical symptom, respectively. The laboratory test methods were enzyme linked immunoassay and radioimmunoassay. PCR-RFLP technology was applied to examine VDR gene Apa I site polymorphism and Hardy-Weinberg hereditary balance test was used to examine the coincidence of gene distribution RESULTS: Frequencies of AA, Aa and aa genotypes were 5.0%, 52.5% and 42.5% in the rickets group and 4.4%, 55.9% and 39.7% in the control group, respectively. Frequencies of A and a genotypes were 31.3% and 68.7% in the rickets group and 32.3% and 67.7% in the control group, respectively. There was not significant difference in the frequency distribution of VDR genotype and allelic genes between two groups (chi(2) = 0.089, P > 0.05; chi(2) = 0.028, P > 0.05). There was significant difference in the serum 25(OH)D(3) between two groups (t = -8.919, P < 0.01) CONCLUSION: The distribution of VDR gene Apa I polymorphism in children of Han ethnic group is balanced relatively. The Frequency of a allelic genes is 67.7% which is therefore the superior gene. VDR gene polymorphism might not be important in an individual's susceptibility to development of vitamin D deficiency |
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| Beschreibung: | Date Completed 20.07.2010 Date Revised 07.06.2016 published: Print Citation Status MEDLINE |
| ISSN: | 0578-1310 |