降钙素受体ALU-Ⅰ基因多态性与骨质疏松相关性研究-外科学(骨外科)专业论文.docxVIP

降钙素受体基因AI 降钙素受体基因AI u I多态性与骨质疏松症相关性的研究 摘要 青岛大学医学院附属医院骨科 研究生：栾军伟 导师：陈晓亮 目的：探讨降钙素受体基因C1377T单核苷酸多态性在山东半岛汉族人群中的分布规 律及与原发性骨质疏松的关系。 方法：应用PCR—RFLP(聚合酶链反应．限制性片段长度多念性)方法测定290名山东 半岛汉族成年人和77名骨质疏松性骨折患者降钙素受体基因型并计算出基因型及等位 基因频率；同时用双能X线吸收法测定腰椎L2、L3、IA和股骨近端(股骨颈、Wards 区、大转子)部位的BMD。比较不同基因型与各部位BMD是否存在相关关系。 结果：本研究人群CTR基因型频率分布均符合Hardy．Weinberg定律俨=1．325， P=-0．245)。367名胶东半岛受试人群基因型频率分布依次为CC型占88．6％，CT型占 11．4％，TT型占0％。年龄与不同部位骨密度值之间呈显著负相关(氏0．01)，体重指数 与骨密度值之间呈显著正相关(PO．01)，在将年龄和体重指数进行校J下后发现CC基因 型较CT基因型在腰椎、wards三角区有较高的骨密度(尸0．05)。骨量正常组各基因型与 骨质疏松性骨折组之间差异无统计学意义(尸O．05)。 结论：1、CC型是山东半岛汉族人群CTR基因型中最常见的类型；2、年龄与骨密度有 显著负相关，体重指数与骨密度有显著正相关；3、CTR基因型与腰椎、wards三角部位 BMD有关联，CT型具有较低骨密度，提示CTR基因型C1377T多念性可能成为胶东半 岛汉族人群发生骨质疏松危险性的遗传标志。 关键词：降钙素受体；基因型；遗传多态性；骨密度 Association Association of Calcitonin Receptor Gene Polymorphism with primary osteoporosis Abstract Objective To investigte the regularity of single nucleotide polymorphism distribution of calcitonin receptor gene C1 377T polymorphism and the relationship between polymorphism of the calcitonin receptor gene and primary osteoporosis in han nationality of Shandong penisula．Methods The ALU I polymorphism of calcitonin receptor gene was tested by polymerase chain reaction—restriction fragment length polymorphism(PCR-RFLP)in 290 adults and 77 osteoporosis patients with osteoporotic fracture who lived in Shandong peninsula for many years，the distribution of CTR genotypes were calculated．BMD of lumbar,femur neck，Wards and troth were measured by dual·。energy X·。ray absorptiometry．The relationship between BMD and polymorphism of CTR gene was analyzed．Results The frequencies distribution of Alu I alleles and genotypes in this cohon followed the Hardy—Weinberg equilibrium谬=1．325，P=o．245)． The frequency distribution ofgenotypes CC、CT and TT were 88．6％、1 1．4％and O％。 Body mass index had significant positive correlation with bone mineral density(P0．01)， age had significant negative correlation with bone mineral density．After body mass index and age were corrected，people with CC g