作者: Philip R. Fischer , Tom D. Thacher , John M. Pettifor , Lynn B. Jorde , T. Ross Eccleshall
DOI: 10.1359/JBMR.2000.15.11.2206
关键词: Calcitriol receptor 、 Biology 、 Allele 、 Allele frequency 、 Internal medicine 、 Vitamin D and neurology 、 Endocrinology 、 vitamin D deficiency 、 Rickets 、 Nutritional Rickets 、 Genotype
摘要: Nutritional rickets is common in Nigeria where vitamin D deficiency rare and dietary insufficiency of calcium common. It occurs more commonly siblings affected children than unaffected children. Postulating that receptor (VDR) polymorphisms might relate to the susceptibility some Nigerian develop setting low intake, we compared VDR genotypes, as determined by presence or absence Bsm I, Apa Taq Fok I restriction enzyme cleavage sites, between 105 with active nutritional 94 subjects representative community from which rachitic came. In group, ff genotype was less FF relatively increased (f allele frequency, 17% 26% p = 0.03). Neither individual frequencies for other nor combinations genotypes at different sites were groups. Although it not clear why a presumed better-functioning variant (F allele) associated an risk developing rickets, this study raises possibility alleles be important determining individual's when faced deficiency.