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

[目的]了解降钙素受体(Calcitonin receptor,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(PCR-RFLP)法测定无亲缘关系的夏河县376名藏民的CTR基因型.并用UBIS 3000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.

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

[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.