中文摘要：

目的 探讨贵州省织金县燃煤型氟中毒病区儿童氟骨症与骨形态发生蛋白-2（bonemorphogeneticproteins．2，BMP-2）基因突变的关联。方法2010年，在贵州省织金县燃煤型氟中毒病区儿童氟骨症情况调查中，通过《氟骨症X线诊断》（WS192．1999）确诊了氟骨症患儿121例，从中选取50例作为氟骨症组；选取该地区经相同诊断方法诊断为无氟中毒骨病变的，且经X线拍片排除佝偻病等相关骨骼疾病的健康儿童30例作为对照组。采用聚合酶链式反应结合DNA测序技术，对氟骨症组及对照组儿童进行BMP．2基因全部3个外显子序列筛查，检测BMP-2基因突变情况。结果①外显子1的第401—402bp处T碱基插入突变：氟骨症组和对照组儿童T碱基插入突变基因型频率分布分别为27．7％（13／47）和7．1％（2／28），两组比较差异有统计学意义（X2=4．600，P〈0．05），调整衄值为4．62（1．94～10．90）。②外显子2的894bp处T-G突变：氟骨症组和对照组儿童TG突变基因型频率分布为14．O％（7／50）和16．7％（5／30），两组比较差异无统计学意义（x2=0．103，P〉0．05）。③外显子2的1046bp处A—G的突变：氟骨症组和对照组基因型分布AA、AG、GG分别为30．0％（15／50）、24．0％（12／50）、46．O％（23／50）和50．0％（15／30）、20．0％（6／30）、30．0％（9／30），组间比较差异无统计学意义（x2=3．099，P〉0．05）。结论外显子1的第401—402bp处T碱基插入突变与氟骨症的关系较为密切，外显子2的1046bp处A—G突变和氟骨症的关系不大。

英文摘要：

Objective To investigated the association between bone morphogenetic proteins-2 （BMP-2） gene mutation and coal-burning skeletal fluorosis of children in Zhijin Guizhou. Methods In 2010, 121 cases of children with skeletal fluorosis were diagnosed based on the standard ＂X-ray Diagnosis of Skeletal Fluorosis＂ （WS 192-1999） in coal-burning skeletal fluorosis areas in Zhijin Guizhou, and 50 cases of them were selected as skeletal fluorosis group. Thirty healthy children free of skeletal fluorosis, rickets and other bone related diseases excluded by X-ray were selected as a control group in the same area. Using polymerase chain reaction combined with DNA Sequencing technology, all three exons of BMP-2 gene were conducted sequence screening in skeletal fluorosis and the control groups to detect gene mutations. Results （1）The T insertion mutation on exon 1 between 401 - 402 bp： the T insertion mutantion genotype frequencies of skeletal fluorosis group and the control group were 27.7% （13/47） and 7.1% （2/28）, and the difference was statistically significant （X2 = 4.600, P 〈 0.05）, adjusted OR value of 4.62 （1.94 - 10.90）. （2）The 894 bp T-G mutation on exon 2： the TG genotype frequencies of skeletal fluorosis group and the control group were 14.0% （7/50） and 16.7% （5/30）, and the difference were not statistically significant （X2= 0.103, P〉 0.05）. （3）The 1 046 bp A-G mutation on exon 2： the AA, AG, GG genotype frequencies of skeletal fluorosis group and the control group was 30.0% （15/50）, 24.0% （12/50）, 46.0% （23/50） and 50.0% （15/30）, 20.0%（6/ 30）, 30.0%（9/30）, and the differences were not statistically significant （X2 = 3.099, P 〉 0.05）. Conclusion Exon 1 at 401 - 402 bp, T insertion mutation and skeletal fluorosis are closely related. The relationship between A-G mutation in exon 2 at 1 046 bp and skeletal fluorosis is not significant.