藏族人降钙素受体基因单核苷酸多态性和骨质疏松的关系  

Relationship between osteoporosis and single nucleotide polymorphism of calcitonin receptor gene in Tibetan

作　　者：王琦[1] 葛宝丰[1] 刘兴炎[2] 殷莹[1] 高梅[1] 

机构地区：[1]兰州军区兰州总医院骨科研究所,兰州730050 [2]兰州军区总医院创伤骨科

出　　处：《中国矫形外科杂志》2005年第15期1168-1170,共3页Orthopedic Journal of China

基　　金：全军医药卫生科研基金资助项目(NO.01Z008)

摘　　要：[目的]了解降钙素受体(Calcitoninreceptor,CTR)基因单核苷酸多态性在藏族人中的分布规律及其与骨质疏松(Osteoporosis,OP)的相关性。[方法]利用聚合酶链反应限制性片段长度多态性(PCRRFLP)法测定无亲缘关系的夏河县376名藏民的CTR基因型。并用UBIS3000定量超声仪测定受试者超声振幅衰减(BUA)、超声声速(SOS)和刚度(STI)三项指标。[结果]受试者中TC型为25.8%、CC型为74.2%、未见TT型,男女间基因型差别无显著性意义(P>0.1),TC基因型组的三项定量超声参数值高于CC基因型组,男性的BUA、SOS和STI均表现为极显著性差异(P<0.001),女性的SOS和STI有显著性差异(P<0.01),BUA有差异(P<0.05)。[结论]CTR的基因型具有种族差异性,藏族的CTR基因型分布频率不同于已见报道的其他种族,其CTR基因型与反映骨密度、骨强度和骨的结构特征的定量超声参数之间有一定关联,藏族的CTR基因型可能为影响骨质疏松发生的危险因素。[ Objective ] To study the regularity of distribution of single nucleotide polymorphism of calcitonin receptor （CTR） gene in Tibetan and the prevalence of CTR gene poly morphism and osteoporosis. [ Method] The patterns of CTR gene of 376 people without genetic relationship in Tibetan were identified by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） , and broadband ultrasound attenvation （BUA） , secure operating system （SOS） and steel tensity index （STI） of receptor were determined by UBIS3000 quantitative ultrasound （QUS）. [ Result] The frequency distribution of geotypes TC and CC was 0. 258 and 0. 742. There were no significant differences between gene of male and female （ P 〉 0. 1 ） ; BUA, SOS and STI of male were extremely different （ P 〈 0. 001 ） ; SOS and STI of female were significantly different （ P 〈0. 01 ） ; BUA of female were different （P 〈0.05）. [ Conclusion] The gene of CTR had race difference; the regularity of distribution of CTR gene in Tibetan were different from that of the reported nationality ; CTR gene was connected with bone density, bone strength and bone structure, and CTR gene of Tibetan may induce osteoporosis.

关 键 词：藏族 降钙素 受体基因 单核苷酸多态性 骨质疏松 基因型 

分 类 号：R58[医药卫生—内分泌]