Association of vitamin D receptor gene Apa I polymorphism with vitamin D deficiency rickets / 中华儿科杂志
Chinese Journal of Pediatrics
;
(12): 514-516, 2005.
Artigo
em Chinês
| WPRIM
| ID: wpr-312140
ABSTRACT
<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSION</b>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.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Raquitismo
/
Deficiência de Vitamina D
/
Sangue
/
Calcifediol
/
Calcitriol
/
Ensaio de Imunoadsorção Enzimática
/
Radioimunoensaio
/
Estudos de Casos e Controles
/
China
/
Reação em Cadeia da Polimerase
Tipo de estudo:
Estudo observacional
/
Fatores de risco
Limite:
Criança, pré-escolar
/
Feminino
/
Humanos
/
Lactente
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Pediatrics
Ano de publicação:
2005
Tipo de documento:
Artigo
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