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目的探讨新疆地区汉族及维吾尔族人群降钙素受体基因型频率分布及其与原发性骨质疏松症的关系。方法女性原发性骨质疏松患者100例(OP组),其中汉族50例(汉族OP组)、维吾尔族50例(维族OP组);体检健康无骨质疏松女性80例(对照组),其中汉族40例(汉族对照组)、维吾尔族40例(维族对照组)。检测并分析各组降钙素受体基因核苷酸序列1377位点C/T多态性分布。结果各组降钙素受体基因1377位点C/T多态性位点等位基因频率分布均符合Hardy-Weinberg定律;汉族OP组与汉族对照组、维族OP组与维族对照组降钙素受体基因型及等位基因频率比较差异均无统计学意义(P>0.05),汉族组降钙素受体基因型及等位基因频率与维族组比较差异有统计学意义(P<0.05)。结论降钙素受体基因多态性可能不是影响骨质疏松发病的重要因素;新疆地区汉族与维吾尔族女性人群降钙素受体基因核苷酸序列1377bp处多态性存在民族差异。
Objective To investigate the frequency distribution of calcitonin receptor genotypes in Han and Uighur populations in Xinjiang and its relationship with primary osteoporosis. Methods 100 cases of female primary osteoporosis (OP group), including 50 Han cases (Han group OP), 50 Uighurs (Uygur OP group); 80 healthy women without osteoporosis (control group) Among them, 40 Han cases (Han control group) and Uyghur 40 cases (Uygur control group). The distribution of C / T polymorphism at the 1377 site of calcitonin receptor gene was detected and analyzed. Results The frequency distributions of allele C / T polymorphism at the 1377 site of the calcitonin receptor gene in each group were in accordance with the Hardy-Weinberg law. In the Han nationality OP group and the Han control group, the Uygur OP group and the Uygur control group were calcitonin There was no significant difference in the genotype and allele frequencies between the two groups (P> 0.05). There was a significant difference in the genotype and allele frequencies of calcitonin receptor between Han nationality group and Uygur group (P <0.05) . Conclusion The polymorphism of calcitonin receptor gene may not be an important factor affecting the pathogenesis of osteoporosis. There is a national difference in the polymorphism of the nucleotide sequence of calcitonin receptor gene at 1377 bp between Han and Uygur women in Xinjiang.