【摘要】 目的研究Ⅰ型胶原α1链(COLⅠA1)基因启动子区-1997G/T位点多态性与成都地区汉族绝经后妇女腰椎骨密度的相互关系。方法根据双能X线吸收法测定第2～4腰椎(L2～4)部位的骨密度值的结果,纳入受试者318例,均为成都地区汉族绝经后妇女,其中骨质疏松症组212例,正常对照组106例;抽取受试者外周静脉血2 mL,提取白细胞基因组DNA;采用聚合酶链反应(PCR)扩增目的基因所在的DNA片段;应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测外周血白细胞基因组COL1A1基因启动子区-1997G/T位点多态性。结果骨质疏松症组中COLⅠA1基因启动子区-1997G/T位点GG、GT、TT基因型分别有82例、99例和31例,对照组中GG、GT、TT基因型分别有51例、45例和10例;骨质疏松症组的COLⅠA1基因启动子区-1997G/T位点等位基因T的频率较正常对照组高(P<0.05);对骨质疏松症组按基因型分组进一步分析发现,TT纯合子组个体的腰椎骨密度比GG纯合子组和GT杂合子组低(P<0.05)。结论COLⅠA1基因启动子区-1997G/T位点多态性与成都地区汉族绝经后妇女腰椎骨密度相关,携带TT基因型的个体更易导致低骨矿密度和患骨质疏松症。更多还原

【Abstract】 Objective To investigate the relationships between1997G/T polymorphisms in collagen Ⅰ alpha 1 gene(COLⅠA1) upstream regulatory region and bone mineral density(BMD) in postmenopausal women.Methods There were 318 voluntary subjects in Chengdu city enrolled(212 osteoporotic postmenopausal women and 106 normal control subjects) and their BMD were measured by dual-energy X-ray absorptiometry(DEXA) at lumbar spine(L2-L4).2 mL peripheral blood was drawn and genomic DNA was extracted from white blood cells.Specific fragment which includes the objective gene was amplified by polymerase chain reaction(PCR);the genotypes of-1997G/T site in COLⅠA1 were detected by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) method.The PCR products were digested with restriction endonuclease Eco31Ⅰ and the result was observed by agarose gel electrophoresis.Results In the osteoporotic postmenopausal women group,82 GG,99 GT and 31 TT were found.In the normal control group,the number of GG,GT and TT were 51,45 and 10.The subjects in osteoporotic group had higher T allele frequencies than those in normal control group(P<0.05).In the osteoporotic postmenopausal women,the carriers with TT genotype of-1997G/T polymorphism had lower spine BMD than those with GG genotype or GT genotype(P<0.05).Conclusion There is a correlation between-1997G/T polymorphisms in COLⅠA1 upstream regulatory region and BMD.The TT genotype individuals have lower BMD than other genotype individuals.更多还原