摘要目的 探讨成纤维细胞生长因子受体2(FGFR2)基因多态性与地方性氟中毒(简称地氟病)的相关性.方法 在贵州省毕节市的燃煤型高氟地区,抽取氟中毒患者148例作为地氟病组;同时在贵州省长顺县的非高氟地区,抽取健康体检人群134例作为对照组.采集研究对象空腹静脉血,提取基因组DNA,采用短串联重复序列-聚合酶链式反应(STRs-PCR),对地氟病及对照人群FGFR2 STR位点rs35668561及D10S14839进行多态性分析.结果 地氟病组FGFR2 STR位点rs35668561的461 bp(22AG)等位基因频率(1.01％)低于对照组(3.36％,x2=5.29,P＜0.05).地氟病组FGFR2 STR位点D10S14839的286 bp(9GT)、300bp(16GT)、310 bp(21GT)及314 bp (23GT)等位基因频率(14.53％、11.82％、16.89％、8.11％)与对照组(22.01％、6.34％、8.96％、16.42％)比较差异有统计学意义.其中地氟病组300bp(16GT)及310 bp(21GT)等位基因频率高于对照组(x2=6.82、7.77,P均＜0.05),286 bp(9GT)及314 bp(23GT)等位基因频率低于对照组(x2=5.32、9.16,P均＜ 0.05).结论 FGFR2 STR位点rs35668561及D10S14839多态性与地氟病有关.其中rs35668561的461 bp(22AG)等位基因可能是地氟病发病的一个保护性因素;D10S14839的300bp(16GT)、310 bp(21GT)等位基因可能是地氟病发病的一个风险因子,286 bp(9GT)、314 bp(23GT)等位基因则可能是保护性因素.

abstractsObjective To investigate the correlation between fibroblast growth factor receptor 2 (FGFR2) gene polymorphism and endemic fluorosis.Methods In Bijie City,Guizhou Province coal-burning-borne high fluoride areas,148 patients with fluorosis were selected as endemic fluorosis group;in non high fluoride areas of Changshun County of Guizhou Province,134 healthy people were selected as control group.Short tandem repeats (STRs)-PCR was utilized to detected the FGFR2 rs35668561 and D10S14839 microsatellite polymorphisms in endemic fluorosis cases and controls.Results FGFR2 rs35668561 461 bp (22AG)allele frequency of endemic fluorosis group (1.01％) was significantly lower than that of the control group (3.36％,x2 =5.29,P ＜ 0.05).FGFR2 D10S14839 286 bp (9GT),300 bp (16GT),310 bp (21GT) and 314 bp (23GT) allele frequency in the endemic fluorosis group were 14.53％,11.82％,16.89％ and 8.11％,in the control group were 22.01％,6.34％,8.96％ and 16.42％,the difference was statistically significant.Then 300 bp (16GT)and 310 bp (21GT)allele frequency of endemic fluorosis group was significantly higher than that of the control group (x2 =6.82,7.77,all P ＜ 0.05),and 286 bp (9GT),314 bp (23GT) allele frequency of endemic fluorosis group was significantly lower than that of the control group (x2 =5.32,9.16,all P ＜ 0.05).Conclusions FGFR2 rs35668561 and D10S14839 polymorphism are associated with endemic fluorosis.FGFR2 rs35668561 461 bp (22AG) allele may be a protective factor of endemic fluorosis.D10S14839 300 bp (16GT) and 310 bp (21GT) allele may be risk factors of endemic fluorosis,286 bp (9GT) and 314 bp (23GT) allele may be protective factors of endemic fluorosis.