长春市汉族女性COL1A1-1997G/T、+1245G/T与骨质疏松  

COL1A1-1997G/T,+1245G/T and osteoporosis of women of Han nationality in Changchun city

作　　者：张萌萌[1] 李亚刚[1] 毛未贤[1] 马倩倩[1] 高远[1] 

机构地区：[1]吉林大学第四医院,吉林长春130011

出　　处：《中国妇幼保健》2011年第17期2585-2587,共3页Maternal and Child Health Care of China

基　　金：吉林省科技发展计划项目〔200805119〕

摘　　要：目的:研究长春市汉族女性Ⅰ型胶原α1链基因(COL1A1)-1997G/T、+1245G/T多态性及其与骨密度(BMD)的关系。方法:①抽取受试人群外周静脉血5 ml,提取DNA。②应用实时荧光定量PCR仪扩增目的基因的DNA片段。③采用TaqMan探针法对-1997G/T及+1245G/T位点进行等位基因鉴别。④应用双能X线骨密度仪测定BMD,将249例受试人群分为骨密度正常、骨质疏松、骨质疏松性骨折三组。结果:长春市汉族女性正常人群COL1A1-1997G/T转换中,GG基因型占38.37%,GT基因型占46.51%,TT基因型占15.12%,以GT基因型为主;骨质疏松患者GG基因型占46.43%,GT基因型占41.43%,TT基因型占12.14%;骨质疏松性骨折患者GG基因型为主,占52.17%,GT基因型占34.79%,TT基因型占13.04%。骨质疏松组GG基因型BMD低于GT、TT基因型,但差异无统计学意义(P>0.05);骨质疏松性骨折组GG基因型BMD显著低于GT、TT基因型,差异有统计学意义(P<0.05)。COL1A1+1245位点G/T转换,在正常人群中发现GT杂合型2例,占总数的0.80%,其余均为GG基因型。结论:COL1A1-1997G/T转换中正常人群以GT基因型为主,骨质疏松患者和骨质疏松性骨折患者以GG基因型为主。骨质疏松患者和骨质疏松性骨折患者GG基因型BMD均低于GT、TT基因型。COL1A1-1997G/T与BMD显著相关,+1245G/T与BMD无相关性。Objective：To study the relationship between-1997G/T and ＋1245G/T polymorphisms of COL1A1 gene and bone mineral density（BMD） of women of Han nationality in Changchun city.Methods：5 ml venous blood samples were obtained from the study subjects,then DNA was abstracted.Real-time fluorescence quantitative PCR amplifier was used to detect DNA fragments of target gene.The alleles in-1997G/T locus and ＋1245G/T locus were differentiated by TaqMan probe method.Dual-energy X-ray absorptiometry（DEXA） was used to detect BMD,249 study subjects were divided into normal BMD group,osteoporosis group and osteoporotic fracture group.Results：In the transformation of G/T in COL1A1-1997 locus in normal female population in Changchun,the proportions of GG genotype,GT genotype and TT genotype were 38.37%,46.51% and 15.12%,respectively,GT genotype was dominated;in the transformation of G/T in COL1A1-1997 locus in osteoporosis group,the proportions of GG genotype,GT genotype and TT genotype were 46.43%,41.43% and 12.14%,respectively;in the transformation of G/T in COL1A1-1997 locus in osteoporotic fracture group,GG genotype was dominated,accounting for 52.17%,the proportions of GT genotype and TT genotype were 34.79% and 13.04%,respectively.In osteoporosis group,BMD of GG genotype was lower than those of GT genotype and TT genotype,but there was no significant difference（P0.05）;in osteoporotic fracture group,BMD of GG genotype was lower than those of GT genotype and TT genotype,and there was significant difference（P0.05）.In the transformation of G/T in COL1A1＋1245 locus in normal female population in Changchun,2 cases with heterozygous G/T genotype were found,accounting for 0.80%,and the other cases were found with GG genotype.Conclusion：In the transformation of G/T in COL1A1-1997 locus in normal female population in Changchun,G/T genotype is dominated;while in osteoporosis group and osteoporotic fracture group,GG genotype is dominated.BMDs of GG genotype in osteoporosis group and osteoporotic fracture group

关 键 词：Ⅰ型胶原基因α1链 基因型 骨质疏松 骨密度 

分 类 号：R589[医药卫生—内分泌]