The relationship between bone morphogenetic proteins-2 gene mutation and coal-burning skeletal fluorosis of children / 中华地方病学杂志

ABSTRACT

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 (WS192-1999) 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 polymcrase 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 ①The T insertion mutation on exon 1 between 401-402 bpthe 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 2the 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).③The 1 046 bp A→G mutation on exon 2the 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 1at 401-402 bp,T insertion mutation and skeletal fluorosis are closely related.The relationship between A→Gmutation in exon 2 at 1 046 bp and skeletal fluorosis is not significant.