C反应蛋白基因-390C/A/T多态性与冠心病的相关性

目的 探讨我国汉族人群中C反应蛋白(C reactive protein,CRP)基因启动子区-390C/A/T单核苷酸多态性的分布,及其与冠心病的相关性. 方法对冠心病组(111例)和对照组(101例)利用聚合酶链反应扩增出相应目的 条带,然后运用序列特异性的聚合酶链反应检测其多态性. 结果 -390C/A/T多态性的等位基因频率在冠心病组中C为64.4%(143/222),A为22.1%(49/222),T为13.5%(30/222);在对照组中,C为77.7%(157/202),A为14.9%(30/202),T为7.4%(15/202),差异有统计学意义(χ~2=29.30,P<0.01).基因型频率在冠心病组中CC为37.8%(42/111),CT为24.3%(27/111),CA为28.8%(32/111),TA为0.9%(1/111),TT为0.9%(1/111),AA为7.2%(8/111);在对照组中CC为60.4%(60/101),CT为11.9%(12/101),CA为22.8%(23/101),TA为1.0%(1/101),TT为1.0%(1/101),AA为3.0%(3/101),差异有统计学意义(χ~2=12.57,P<0.01).运用多元对数回归分析冠心病其他相关危险因素(体质指数、年龄、三酰甘油、总胆固醇、高密度脂蛋白胆固醇、低密度脂蛋白胆固醇、血糖、糖尿病、吸烟、饮酒和高血压),排除其对CRP基因启动子区多态性的影响,发现该位点依然与冠心病相关,那些带有T等位基因个体患冠心病的概率是不带T等位基因个体的2.66倍(OR=2.66,95%CI 1.05～6.75,P<0.05).结论 -390C/A/T与冠心病相关,其T等位基因是冠心病的独立危险因素,该位点可能是潜在的冠心病基因诊断标记.     

髓过氧化物酶和过氧化氢酶基因多态性及其酶活力与燃煤污染型地方性砷中毒关系的探讨

目的 了解燃煤污染型地方性砷中毒患者体内髓过氧化物酶(MPO)基因和过氧化氢酶(CAT)基因的多态性及其酶活力,分析其与砷中毒发生的关系.方法 以贵州省兴仁县交乐村燃煤污染型地方性砷中毒病区的130例砷中毒患者为病例(砷中毒)组,以居住在距病区约13 km非砷污染大果垛村的140例健康居民为对照组.采集两组人群静脉血,采用PCR-限制性片段长度多态性(PCR-RFLP)方法检测MPO基因-463 G/A位点和CAT基因-262C/T位点的多态性;采用紫外分光光度法检测MPO活力;采用比色法检测CAT活力.结果 砷中毒组MPO-463G/A位点GG、GA和AA基因型分布频率为47.24%(60/127)、44.09%(56/127)和8.67%(11/127),对照组为42.34%(58/137)、48.17%(66/137)和9.49%(13/137),两组比较差异无统计学意义(χ2=0.642,P>0.05).砷中毒组CAT-262C/T位点CC、CT和TT基因型分布频率为65.60%(82/125)、28.80%(36/125)和5.60%(7/125),对照组为76.51%(101/132)、18.94%(25/132)和4.55%(6/132),两组比较差异无统计学意义(χ2=3.845,P>0.05).未发现MPO-463G/A位点和CAT-262C/T位点多态性与砷中毒发病风险(比值比,OR)的关联度有统计学意义(MPO:Oradj=1.36,95%CI:0.74～2.50;CAT:Oradj=1.35,95%CI:0.69～2.63).砷中毒组MPO和CAT活力分别为(25.30±8.70)U/L和(2.80±1.09)×103U/L,对照组分别为(22.76±7.59)U/L和(3.90±1.01)×103U/L,两组比较差异有统计学意义(F值分别为0.760、0.855,P均<0.05).MPO-463G/A和CAT-262C/T不同基因型个体MPO和CAT酶活力比较,差异无统计学意义(F值分别为1.312、2.822,0.151、0.036,P均>0.05).结论 未发现MPO基因-463G/A位点和CAT基因-262C/T位点多态性与燃煤污染型地方性砷中毒的发病风险有关;砷可致MPO和CAT酶活力改变,此改变可能不受MPO-463G/A和CAT-262C/T多态性的影响.     

维生素D受体基因多态性与贵州省燃煤型氟中毒易感性的相关性研究

目的 观察维生素D受体(VDR)基因多态性在贵州省燃煤型氟中毒人群中的分布情况,探讨VDR基因多态性与燃煤型氟中毒易感性的关系.方法 在贵州省毕节地区燃煤型氟中毒病区非改灶村抽取150名村民作为非干预组,在改灶村抽取150名村民作为干预组,同时在非病区长顺县抽取150名村民作为对照组.采集观察对象外周静脉血,提取DNA,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法测定3组人群VDR Bsm Ⅰ、FokⅠ基因型,观察燃煤型氟中毒地区人群VDR各基因型分布情况,并分析组间基因型分布的差异.结果 对照组[AA:19.3％(29/150),AG:39.3％(59/150),GG:41.3％(62/150)]、非干预组[AA:4.7％ (7/150),AG:14.0％ (21/150),GG:81.3％ (122/150)]、干预组[AA:7.3％ (11/150),AG:23.3％ (35/150),GG:69.3％(104/150)]VDR基因Bsm Ⅰ位点基因型分布频率比较,差异有统计学意义(X2=56.6,P＜ 0.05).对照组[TT:45.3％(68/150),TC:48.7％( 73/150),CC:6.0％(9/150)]、非干预组[TT:29.3％(44/150),TC:55.3％ (83/150),CC:15.3％(23/150)]、干预组[TT:32.7％(49/150),TC:55.3％(83/150),CC:12.0％ (18/150)]VDR基因FokⅠ位点基因型分布频率组间比较,差异有统计学意义(X2=11.9,P＜0.05);与对照组比较,非干预组CC基因型频率明显增高(X2=6.9,P＜0.05).单因素分析显示携带GG基因型的个体比携带AA和AG基因型的个体增加了发生氟中毒的风险(非干预组、干预组与对照组比较,OR值分别为6.2、3.2,P均＜0.05),而携带TC和CC基因型的个体比携带TT基因型的个体增加了发生氟中毒的风险(非干预组、干预组与对照组比较,OR值分别为1.3、2.8,1.3、2.1,P均＜0.05).结论 VDR基因多态性可能是影响燃煤型氟中毒易感因素之一.     

髓过氧化物酶和过氧化氢酶基因多态性及其酶活力与燃煤污染型地方性砷中毒关系的探讨

Objective To detect genetic polymorphism of myeloperoxidase (MPO) gene and catalase (CAT) gene and their activities, and to analyze their relationship with arsenic poisoning caused by coal-burning. Methods One hundred and thirty arsenic poisoning patients were chosen as case group in Jiaole Village, Xingren County, Guizhou Province(an endemic area). One hundred and forty healthy residents living in 13 km away were chosen as control group. Their blood was collected. Polymerase chain reaction-restriction fragment length polymorphism technique(PCR-RFLP) was used to detect polymorphism of MPO-463G/A and CAT-262C/T. Ultraviolet spectmphotometer method was used to detect myeloperoxidase activity. Chromatometry method was used to detect catalase activity. Results The genotype frequency of MPO-463G/A at GG, GA, AA site was 47.24%(60/127), 44.09%(56/127),8.67% (11/127) in case group and 42.34% (58/137),48.17% (66/137)1,9.49% (13/137) in control group, respectively. The difference between the two groups was not significant(χ2 = 0.642, P > 0.05). The genotype frequency of CAT-262C/T, at CC, CT, TT site was 65.60%(82/125),28.80%(36/125),5.60%(7/125) in case group and 76.51%(101/132), 18.94% (25/132) ,4.55% (6/132) in control group, respectively, without significant difference (χ2 =3.845, P>0.05). The relationship between polymorphism of MPO-463G/A and CAT-262C/T and the risk of arsenic poisoning was not found in this study(ORadj= 1.36, 95%CI: 0.74-2.50 for MPO; ORadj=1.35, 95%CI: 0.69-2.63 for CAT). The activities of MPO and CAT were (25.30±8.70)U/L and (2.80± 1.09)×103 U/L in case group, while (22.76±7.59)U/L and (3.90±1.01)×103U/L in control group with a significant difference(F=0.760 for MPO, F=0.855 for CAT, all P < 0.05). The genotype of MPO-463G/A and CAT-262C/T was not found to have relationship with the activities of MPO, CAT(F=1.312,2.822 for MPO; F= 0.151,0.036 for CAT, P>0.05). Conclusions Genetic polymorphism of MPO-463G/A and CAT-262C/T is not found to have relationship with arsenic poisoning. Arsenic can lead to the change of MPO and CAT activity, which, however, may not be affected by MPO-463G/A and CAT-262C/T polymorphism.     

髓过氧化物酶和过氧化氢酶基因多态性及其酶活力与燃煤污染型地方性砷中毒关系的探讨

Objective To detect genetic polymorphism of myeloperoxidase (MPO) gene and catalase (CAT) gene and their activities, and to analyze their relationship with arsenic poisoning caused by coal-burning. Methods One hundred and thirty arsenic poisoning patients were chosen as case group in Jiaole Village, Xingren County, Guizhou Province(an endemic area). One hundred and forty healthy residents living in 13 km away were chosen as control group. Their blood was collected. Polymerase chain reaction-restriction fragment length polymorphism technique(PCR-RFLP) was used to detect polymorphism of MPO-463G/A and CAT-262C/T. Ultraviolet spectmphotometer method was used to detect myeloperoxidase activity. Chromatometry method was used to detect catalase activity. Results The genotype frequency of MPO-463G/A at GG, GA, AA site was 47.24%(60/127), 44.09%(56/127),8.67% (11/127) in case group and 42.34% (58/137),48.17% (66/137)1,9.49% (13/137) in control group, respectively. The difference between the two groups was not significant(χ2 = 0.642, P > 0.05). The genotype frequency of CAT-262C/T, at CC, CT, TT site was 65.60%(82/125),28.80%(36/125),5.60%(7/125) in case group and 76.51%(101/132), 18.94% (25/132) ,4.55% (6/132) in control group, respectively, without significant difference (χ2 =3.845, P>0.05). The relationship between polymorphism of MPO-463G/A and CAT-262C/T and the risk of arsenic poisoning was not found in this study(ORadj= 1.36, 95%CI: 0.74-2.50 for MPO; ORadj=1.35, 95%CI: 0.69-2.63 for CAT). The activities of MPO and CAT were (25.30±8.70)U/L and (2.80± 1.09)×103 U/L in case group, while (22.76±7.59)U/L and (3.90±1.01)×103U/L in control group with a significant difference(F=0.760 for MPO, F=0.855 for CAT, all P < 0.05). The genotype of MPO-463G/A and CAT-262C/T was not found to have relationship with the activities of MPO, CAT(F=1.312,2.822 for MPO; F= 0.151,0.036 for CAT, P>0.05). Conclusions Genetic polymorphism of MPO-463G/A and CAT-262C/T is not found to have relationship with arsenic poisoning. Arsenic can lead to the change of MPO and CAT activity, which, however, may not be affected by MPO-463G/A and CAT-262C/T polymorphism.     

髓过氧化物酶和过氧化氢酶基因多态性及其酶活力与燃煤污染型地方性砷中毒关系的探讨

Objective To detect genetic polymorphism of myeloperoxidase (MPO) gene and catalase (CAT) gene and their activities, and to analyze their relationship with arsenic poisoning caused by coal-burning. Methods One hundred and thirty arsenic poisoning patients were chosen as case group in Jiaole Village, Xingren County, Guizhou Province(an endemic area). One hundred and forty healthy residents living in 13 km away were chosen as control group. Their blood was collected. Polymerase chain reaction-restriction fragment length polymorphism technique(PCR-RFLP) was used to detect polymorphism of MPO-463G/A and CAT-262C/T. Ultraviolet spectmphotometer method was used to detect myeloperoxidase activity. Chromatometry method was used to detect catalase activity. Results The genotype frequency of MPO-463G/A at GG, GA, AA site was 47.24%(60/127), 44.09%(56/127),8.67% (11/127) in case group and 42.34% (58/137),48.17% (66/137)1,9.49% (13/137) in control group, respectively. The difference between the two groups was not significant(χ2 = 0.642, P > 0.05). The genotype frequency of CAT-262C/T, at CC, CT, TT site was 65.60%(82/125),28.80%(36/125),5.60%(7/125) in case group and 76.51%(101/132), 18.94% (25/132) ,4.55% (6/132) in control group, respectively, without significant difference (χ2 =3.845, P>0.05). The relationship between polymorphism of MPO-463G/A and CAT-262C/T and the risk of arsenic poisoning was not found in this study(ORadj= 1.36, 95%CI: 0.74-2.50 for MPO; ORadj=1.35, 95%CI: 0.69-2.63 for CAT). The activities of MPO and CAT were (25.30±8.70)U/L and (2.80± 1.09)×103 U/L in case group, while (22.76±7.59)U/L and (3.90±1.01)×103U/L in control group with a significant difference(F=0.760 for MPO, F=0.855 for CAT, all P < 0.05). The genotype of MPO-463G/A and CAT-262C/T was not found to have relationship with the activities of MPO, CAT(F=1.312,2.822 for MPO; F= 0.151,0.036 for CAT, P>0.05). Conclusions Genetic polymorphism of MPO-463G/A and CAT-262C/T is not found to have relationship with arsenic poisoning. Arsenic can lead to the change of MPO and CAT activity, which, however, may not be affected by MPO-463G/A and CAT-262C/T polymorphism.     

髓过氧化物酶和过氧化氢酶基因多态性及其酶活力与燃煤污染型地方性砷中毒关系的探讨

Objective To detect genetic polymorphism of myeloperoxidase (MPO) gene and catalase (CAT) gene and their activities, and to analyze their relationship with arsenic poisoning caused by coal-burning. Methods One hundred and thirty arsenic poisoning patients were chosen as case group in Jiaole Village, Xingren County, Guizhou Province(an endemic area). One hundred and forty healthy residents living in 13 km away were chosen as control group. Their blood was collected. Polymerase chain reaction-restriction fragment length polymorphism technique(PCR-RFLP) was used to detect polymorphism of MPO-463G/A and CAT-262C/T. Ultraviolet spectmphotometer method was used to detect myeloperoxidase activity. Chromatometry method was used to detect catalase activity. Results The genotype frequency of MPO-463G/A at GG, GA, AA site was 47.24%(60/127), 44.09%(56/127),8.67% (11/127) in case group and 42.34% (58/137),48.17% (66/137)1,9.49% (13/137) in control group, respectively. The difference between the two groups was not significant(χ2 = 0.642, P > 0.05). The genotype frequency of CAT-262C/T, at CC, CT, TT site was 65.60%(82/125),28.80%(36/125),5.60%(7/125) in case group and 76.51%(101/132), 18.94% (25/132) ,4.55% (6/132) in control group, respectively, without significant difference (χ2 =3.845, P>0.05). The relationship between polymorphism of MPO-463G/A and CAT-262C/T and the risk of arsenic poisoning was not found in this study(ORadj= 1.36, 95%CI: 0.74-2.50 for MPO; ORadj=1.35, 95%CI: 0.69-2.63 for CAT). The activities of MPO and CAT were (25.30±8.70)U/L and (2.80± 1.09)×103 U/L in case group, while (22.76±7.59)U/L and (3.90±1.01)×103U/L in control group with a significant difference(F=0.760 for MPO, F=0.855 for CAT, all P < 0.05). The genotype of MPO-463G/A and CAT-262C/T was not found to have relationship with the activities of MPO, CAT(F=1.312,2.822 for MPO; F= 0.151,0.036 for CAT, P>0.05). Conclusions Genetic polymorphism of MPO-463G/A and CAT-262C/T is not found to have relationship with arsenic poisoning. Arsenic can lead to the change of MPO and CAT activity, which, however, may not be affected by MPO-463G/A and CAT-262C/T polymorphism.     

髓过氧化物酶和过氧化氢酶基因多态性及其酶活力与燃煤污染型地方性砷中毒关系的探讨

Objective To detect genetic polymorphism of myeloperoxidase (MPO) gene and catalase (CAT) gene and their activities, and to analyze their relationship with arsenic poisoning caused by coal-burning. Methods One hundred and thirty arsenic poisoning patients were chosen as case group in Jiaole Village, Xingren County, Guizhou Province(an endemic area). One hundred and forty healthy residents living in 13 km away were chosen as control group. Their blood was collected. Polymerase chain reaction-restriction fragment length polymorphism technique(PCR-RFLP) was used to detect polymorphism of MPO-463G/A and CAT-262C/T. Ultraviolet spectmphotometer method was used to detect myeloperoxidase activity. Chromatometry method was used to detect catalase activity. Results The genotype frequency of MPO-463G/A at GG, GA, AA site was 47.24%(60/127), 44.09%(56/127),8.67% (11/127) in case group and 42.34% (58/137),48.17% (66/137)1,9.49% (13/137) in control group, respectively. The difference between the two groups was not significant(χ2 = 0.642, P > 0.05). The genotype frequency of CAT-262C/T, at CC, CT, TT site was 65.60%(82/125),28.80%(36/125),5.60%(7/125) in case group and 76.51%(101/132), 18.94% (25/132) ,4.55% (6/132) in control group, respectively, without significant difference (χ2 =3.845, P>0.05). The relationship between polymorphism of MPO-463G/A and CAT-262C/T and the risk of arsenic poisoning was not found in this study(ORadj= 1.36, 95%CI: 0.74-2.50 for MPO; ORadj=1.35, 95%CI: 0.69-2.63 for CAT). The activities of MPO and CAT were (25.30±8.70)U/L and (2.80± 1.09)×103 U/L in case group, while (22.76±7.59)U/L and (3.90±1.01)×103U/L in control group with a significant difference(F=0.760 for MPO, F=0.855 for CAT, all P < 0.05). The genotype of MPO-463G/A and CAT-262C/T was not found to have relationship with the activities of MPO, CAT(F=1.312,2.822 for MPO; F= 0.151,0.036 for CAT, P>0.05). Conclusions Genetic polymorphism of MPO-463G/A and CAT-262C/T is not found to have relationship with arsenic poisoning. Arsenic can lead to the change of MPO and CAT activity, which, however, may not be affected by MPO-463G/A and CAT-262C/T polymorphism.     

髓过氧化物酶和过氧化氢酶基因多态性及其酶活力与燃煤污染型地方性砷中毒关系的探讨

Objective To detect genetic polymorphism of myeloperoxidase (MPO) gene and catalase (CAT) gene and their activities, and to analyze their relationship with arsenic poisoning caused by coal-burning. Methods One hundred and thirty arsenic poisoning patients were chosen as case group in Jiaole Village, Xingren County, Guizhou Province(an endemic area). One hundred and forty healthy residents living in 13 km away were chosen as control group. Their blood was collected. Polymerase chain reaction-restriction fragment length polymorphism technique(PCR-RFLP) was used to detect polymorphism of MPO-463G/A and CAT-262C/T. Ultraviolet spectmphotometer method was used to detect myeloperoxidase activity. Chromatometry method was used to detect catalase activity. Results The genotype frequency of MPO-463G/A at GG, GA, AA site was 47.24%(60/127), 44.09%(56/127),8.67% (11/127) in case group and 42.34% (58/137),48.17% (66/137)1,9.49% (13/137) in control group, respectively. The difference between the two groups was not significant(χ2 = 0.642, P > 0.05). The genotype frequency of CAT-262C/T, at CC, CT, TT site was 65.60%(82/125),28.80%(36/125),5.60%(7/125) in case group and 76.51%(101/132), 18.94% (25/132) ,4.55% (6/132) in control group, respectively, without significant difference (χ2 =3.845, P>0.05). The relationship between polymorphism of MPO-463G/A and CAT-262C/T and the risk of arsenic poisoning was not found in this study(ORadj= 1.36, 95%CI: 0.74-2.50 for MPO; ORadj=1.35, 95%CI: 0.69-2.63 for CAT). The activities of MPO and CAT were (25.30±8.70)U/L and (2.80± 1.09)×103 U/L in case group, while (22.76±7.59)U/L and (3.90±1.01)×103U/L in control group with a significant difference(F=0.760 for MPO, F=0.855 for CAT, all P < 0.05). The genotype of MPO-463G/A and CAT-262C/T was not found to have relationship with the activities of MPO, CAT(F=1.312,2.822 for MPO; F= 0.151,0.036 for CAT, P>0.05). Conclusions Genetic polymorphism of MPO-463G/A and CAT-262C/T is not found to have relationship with arsenic poisoning. Arsenic can lead to the change of MPO and CAT activity, which, however, may not be affected by MPO-463G/A and CAT-262C/T polymorphism.     

髓过氧化物酶和过氧化氢酶基因多态性及其酶活力与燃煤污染型地方性砷中毒关系的探讨

Objective To detect genetic polymorphism of myeloperoxidase (MPO) gene and catalase (CAT) gene and their activities, and to analyze their relationship with arsenic poisoning caused by coal-burning. Methods One hundred and thirty arsenic poisoning patients were chosen as case group in Jiaole Village, Xingren County, Guizhou Province(an endemic area). One hundred and forty healthy residents living in 13 km away were chosen as control group. Their blood was collected. Polymerase chain reaction-restriction fragment length polymorphism technique(PCR-RFLP) was used to detect polymorphism of MPO-463G/A and CAT-262C/T. Ultraviolet spectmphotometer method was used to detect myeloperoxidase activity. Chromatometry method was used to detect catalase activity. Results The genotype frequency of MPO-463G/A at GG, GA, AA site was 47.24%(60/127), 44.09%(56/127),8.67% (11/127) in case group and 42.34% (58/137),48.17% (66/137)1,9.49% (13/137) in control group, respectively. The difference between the two groups was not significant(χ2 = 0.642, P > 0.05). The genotype frequency of CAT-262C/T, at CC, CT, TT site was 65.60%(82/125),28.80%(36/125),5.60%(7/125) in case group and 76.51%(101/132), 18.94% (25/132) ,4.55% (6/132) in control group, respectively, without significant difference (χ2 =3.845, P>0.05). The relationship between polymorphism of MPO-463G/A and CAT-262C/T and the risk of arsenic poisoning was not found in this study(ORadj= 1.36, 95%CI: 0.74-2.50 for MPO; ORadj=1.35, 95%CI: 0.69-2.63 for CAT). The activities of MPO and CAT were (25.30±8.70)U/L and (2.80± 1.09)×103 U/L in case group, while (22.76±7.59)U/L and (3.90±1.01)×103U/L in control group with a significant difference(F=0.760 for MPO, F=0.855 for CAT, all P < 0.05). The genotype of MPO-463G/A and CAT-262C/T was not found to have relationship with the activities of MPO, CAT(F=1.312,2.822 for MPO; F= 0.151,0.036 for CAT, P>0.05). Conclusions Genetic polymorphism of MPO-463G/A and CAT-262C/T is not found to have relationship with arsenic poisoning. Arsenic can lead to the change of MPO and CAT activity, which, however, may not be affected by MPO-463G/A and CAT-262C/T polymorphism.     

全血中化学元素与燃煤污染型氟中毒的关系

目的 比较燃煤污染型地方性氟中毒(简称地氟病)患者与非地氟病患者全血中化学元素及尿氟含量差异,为查找与地氟病相关的元素及进一步阐明地氟病发病机制奠定理论基础.方法 采用病例对照研究方法,于2010年12月至2011年2月,在重庆市巫山县、奉节县抽取8～ 12岁氟斑牙患病儿童100例、成人氟骨症患者30例作为病例组;抽取8～ 12岁非氟斑牙患病儿童100例、成人非氟骨症患者30例作为内对组;在非地氟病病区渝北区抽取非氟斑牙患病儿童50例、成人非氟骨症患者30例作为外对照组.测定所有调查对象全血中铜、锌、钙、镁、铁及尿样中尿氟含量,对比分析3组人群各检测指标的含量差异.结果 8～12岁儿童的病例组铜、锌、钙、镁、铁、尿氟含量分别为(30.08±2.83)、(74.04±9.75) μmol/L,(1.65±0.29)、(1.37±0.17)、(6.79±1.27) mmol/L,(0.73±0.37)mg/L;内对照组分别为(28.65±3.96)、(72.83±11.35)μ.mol/L,(1.62±0.27)、(1.36±0.18)、(6.73±1.22)mmol/L,(0.48±0.21)mg/L;外对照组分别为(32.03±2.99)、(77.78±10.85) μmol/L,(1.41±0.11)、( 1.43±0.13)、(7.66±0.55) mmol/L,(0.49±0.26)mg/L.两两比较发现,病例组铜、锌、镁、铁低于外对照组,尿氟高于内、外对照组(P均＜0.05);成人的病例组铜、锌、钙、镁、铁、尿氟分别为(26.93±4.37)、(95.89±12.45)μmol/L,(1.50±1.76)、( 1.56±1.96)、(8.15±1.00)mmol/L.(2.17±0.99)mg/L;内对照分别为(26.26±4.96),(94.86±12.18 )μmol/L,(1.57±0.12)、( 1.46±0.16)、(7.64±1.00)mmol/L,( 1.44±1.22)mg/L;外对照组分别为(26.20±2.96)、(96.52±11.11) μmol/L,(1.48±0.14)、( 1.45±0.16)、(7.81±0.91 )mmol/L,(0.55±0.21 )mg/L,其中病例组镁、铁、尿氟高于内对照组,镁、尿氟高于外对照组(P均＜0.05).结论病区人群体内抗氟元素水平较低,其他化学元素、环境、遗传等因素可能与发病有关,需进一步做全面分析.     

贵州省地方性氟中毒地区人群GSTP1基因Ile105Val位点多态性分析

目的 探讨贵州省毕节市燃煤型氟中毒地区人群谷胱甘肽硫转移酶(GSTs)活性及GSTP1基因Ile105Val位点多态性.方法 在贵州省毕节市鸭池镇燃煤型氟中毒非改灶村抽取160名村民作为非干预组,在毕节市长春镇燃煤型氟中毒改灶村抽取153名村民作为干预组,在非病区长顺县白云山镇抽取151名村民作对照组,用比色法分别测定各组GSTs活力;PCR-限制性片段长度多态性(PCR-RFLR)法检测各组GSTP1基因Ile105Val位点多态性[野生纯合型(AA)、突变杂合型(AG)、突变纯合型(GG)].结果 GSTs活力组间比较差异有统计学习意义(F=51.71,P<0.05).其中对照组[(24.30±6.27)kU/L]高于干预组[(20.78±6.20)kU/L]、非干预组[(12.44±4.97)kU/L],组间两两比较差异有统计学意义(P均<0.05);同组性别间比较差异无统计学意义(P均>0.05).GSTP1基因Ile105Val位点多态性,干预组[AA:67.3%(103/153),AG:29.4%(45/153),GG:3.3%(5/153)]、非干预组[AA:66.9%(107/160),AG:30%(48/160),GG:3.1%(5/160)]与对照组[AA:74.8%(113/151),AG:25.2%(38/151),GG:0(0/151)]比较,差异有统计学意义(χ2=6.04、6.07,P均<0.05);干预组与非干预组比较,差异无统计学意义(χ2=0.02,P>0.05).结论 氟中毒能导致机体GSTP1基因lle105Val基因位点的多态性发生变化,人为干预对氟的摄入可改善氟对机体的影响.     

2009年贵州省燃煤污染型地方性氟中毒病区防氟铁炉使用情况调查

目的 调查贵州省燃煤污染型地方性氟中毒(简称地氟病)病区防氟铁炉的使用情况,为地氟病防治项目管理提供依据.方法 按<贵州省地氟病防治项目铁炉调查方案>,在2005-2008年实施地氟病防治项目改良铁炉的18个县,每个项目年度每个县抽取2个乡,每个乡抽取2个村,每个村调查10户项目户.问卷调查内容包括改良铁炉的使用情况及项目户防治地氟病健康知识知晓情况.结果 ①改良铁炉完成率为100.00%(1286/1286).②改良铁炉总体使用率为94.09%(1210/1286),其中冬季使用率为62.21%(800/1286),全年使用率为31.88%(410/1286).③不使用改良铁炉的项目户中有46.05%(35/76)是由于改用其他清洁能源,此外有19.74%(15/76)是将铁炉转送或变卖、有14.47%(11/76)是由于仍习惯使用敞灶、有13.16%(10/76)是由于煤价过高、有6.58%(5/76)是由于改良铁炉满足不了生活需求而不再使用.④对1261户项目户进行人户调查,铁炉损坏率为24.58%(310/1261),铁炉部件的损坏主要是烟囱和炉芯,分别占损坏部件的51.94%(161/310)和29.03%(90/310).铁炉损坏部件修复率达32.58%(101/310).⑤用问卷调查了1286户项目户,防治地氟病健康知识知晓率为82.74%(1064/1286),对改良铁炉的满意率为88.65%(1140/1286).结论 贵州省实施燃煤污染型地氟病防治项目改良的铁炉符合病区群众生活习惯,基本能满足病区群众的生活需求,绝大多数项目户仍在使用改良的铁炉,摈弃了过去使用的敞灶,但仍需进一步加强项目的 后期管理和强化健康教育干预工作,建立和完善炉灶维修网点,使燃煤污染型地氟病可持续控制.

Abstract：

Objective To investigate the usage of fluorine-proof iron stove in regions with coal-burning borne endemic fluorosis of Guizhou province and to provide scientific basis for the project management. Methods According to "the local prevention programs against coal-burning borne endemic fluorosis-Guizhou iron stove usage survey scheme", in the 18 counties implemented the project of improving the iron stove from 2005 to 2008, 2 townships were selected randomly in each county of each project annually, 2 villages were selected in each township randomly, and 10 households were checked in each village. The project households were investigated using questionnaire of the related health knowledge and awareness as well as the satisfaction of the households.Results ①The improvement rate of iron stove was 100.00%(1286/1286). ②The overall utilization rate of the improved stove was 94.09% (1210/1286), in which winter was 62.21% (800/1286) and annual was 31.88%(410/1286). ③Among the households that did not use the project stove, 46.05%(35/76) households was due to switch to other clean energy, in addition, 19.74%(15/76) was due to sell or send to other households, and 14.47%(11/76) was still used to use the open kitchen without the ventilating pipe, and still 13.16%(10/76) was due to high coal prices, and 6.58%(5/76) was due to that the improved stove can not meet the needs of life and no longer used. ④Amoag 1261 households investigated, households with damaged furnace was 24.58%(310/1261 ), and the parts damaged were mainly chimney (ventilating pipe) and the furnace core, accounting for 51.94%(161/310) and 29.03%(90/310), respectively. Repair rate of the damaged parts was 32.58%(101/310). ⑤The health knowledge rate was about 82.74% (1064/1286), and the satisfaction of the iron furnace was 88.65% (1140/1286).Conclusions The improved stoves for the prevention of endemic fluorosis in the diseased area meet the people's living habits, and meet their basic livelihood needs. Most project households are still using the improved furnace.But we still need to further strengthen the project management and the health education intervention, establish and improve stove maintenance network, and reach the goal of sustainable control of coal-burning borne endemic fluorosis.     

2006年河南省洛阳市燃煤污染型氟中毒病区现状调查

目的 了解河南省洛阳市燃煤污染型氟中毒(简称地氟病)病区现状,为制订地氟病防治措施提供依据.方法 2006年,采用一村一户一表的登记式方法,对洛阳市所辖的偃师市、孟津县、新安县、栾川县和吉利区共941个历史燃煤污染型地氟病自然村病情现况、生活习惯、住房结构等进行普查.普查中对人口数在500人以上的病区自然村作为重点调查村,进行水氟、8～12岁儿童氟斑牙病情及尿氟测定.水氟、儿童尿氟测定采用氟离子选择电极法,儿童氟斑牙检查采用Dean法.结果 在洛阳市地氟病病区,现存地氟病自然村742个,与历史村数比较减少了199个.96.7%(142 543/147 419)的居民户以本地石煤及外购的无烟煤做燃料,无排烟设施.其中独立厨房户数占93.6%(137 919/147 419),有63.0%(86 889/137 919)的居户厨房和卧室相通.125 060户群众用燃煤炉取暖,其中87.8%(109 802/125 060)有排烟设施,12.2%(15 258/125 060)无排烟设施.抽取人121数在500人以上的病区自然村52个,采集饮用水水样183份,2份水样水氟>1.0ms/L,最高水氟值1.04 mg/L,水氟均值0.39 mg/L.儿童氟斑牙总检出率为36.06%,检出率>30%有36个自然村,占69.2%(36/52),儿童氟斑牙检出率<30%有16个自然村,占30.8%(16/52).儿童氟斑牙指数>0.6的有23个自然村,中度氟斑牙检出率为1.3%(94/7238),但未发现重度氟斑牙儿童.测定8～12岁儿童即时尿样1408份,尿氟最高值6.88 mg/L,最低值0.10 mg/L,几何均数1.10 mg/L.结论 洛阳市燃煤型氟中毒病区村数较过去减少,儿童氟斑牙病情大幅度下降,部分群众仍然厨房卧室相通,无排烟设施,须教育群众改变生活方式、改炉改灶减轻煤烟氟污染.     

Fas配体启动子区-844T/C单核苷酸多态性与重型乙型肝炎转归的关系

目的 探讨中国汉族人Fas配体(FasL)基因单核苷酸多态性与重型乙型肝炎之间的关系.方法 采用病例一对照研究方法,将HBV感染者作为研究对象.收集相关的非活动性HBsAg携带者233例,重型肝炎患者68例,HBV自发清除者100例,肝硬化患者102例,肝细胞癌患者112例的全血标本及临床相关资料.应用TaqMan探针实时荧光分型PCR方法检测患者FasL基因-844T/C位点的基因多态性,计算比值比(OR)值及95%可信区间(CI).结果 应用二元Logistic回归分析,控制年龄、性别等因素后,非活动性HBsAg携带者的FasL-844 CC、CT、TT基因型频率分别为50.64%、39.91%及9.44%;重型肝炎组中FasL-844 CC、CT、TT基因型频率分别为79.41%、17.65%及2.94%.携带FasL-844CC基因型的非活动性HBsAg携带者与重型肝炎的发生呈显著关联(OR=4.729,95%CI:0.510～21.282,P=0.043),而其他病例对照组中存在的关联差异均无统计学意义(P>0.05).结论 携带FasL-844CC基因型的非活动性HBsAg携带者易发生乙型肝炎重症化,应对这部分人群给予更多的关注.

Abstract：

Objective To investigate the relationship between single nucleotide polymorphism (SNP) of Fas ligand (FasL) and fulminant hepatitis B in Han Chinese. Methods HBV infected subjects were enrolled in this case-control study, including 233 cases of inactive HBsAg carrier, 68 patients with fulminant hepatitis B,100 cases of spontaneous hepatitis B clearance, 102 patients with hepatitis B virus (HBV) related cirrhosis and 112 patients with HBV related primary hepatocellular carcinoma. The blood samples and clinical data were collected. FasL-844T/C polymorphisms of enrolled subjects were examined by TaqMan real time fluorescent genotyping polymerase chain reaction (RT-PCR). A adjusted odds ratios (OR)and 95% confidence intervals (CI)were calculated using the Logistic regression model. Results After adjusting the factors of gender and age, binary Logistic regression analyses indicated that the genotype frequencies of FasL-844 CC,CT,TT in inactive HBsAg carriers were 50. 64% ,39. 91% and 9. 44% respectively, and those in cases of fulminant hepatitis B were 79. 41%, 17. 65% and 2. 94%, respectively. The analysis also revealed that FasL-844CC genotype in inactive HBsAg carriers was high risk factor of developing fulminant hepatitis B (OR =4. 729,95%CI:0. 510 - 21. 282,P = 0. 043), while there were no statistic significances in other cases (P>0. 05). Conclusion The inactive HBsAg carriers harboring FasL-844CC may have greater susceptibility to fulminant hepatitis B, which need arouse high attention.     

高血压合并主动脉夹层基质金属蛋白酶9基因-1562C/T多态性

目的探讨高血压病合并主动脉夹层患者基质金属蛋白酶9（MMP-9）基因一1562C／T基因多态性与临床表现的关系。方法对高血压病合并主动脉夹层患者及高血压病患者用酚一氯仿法提取外周血基因组DNA,PCR-限制性片段长度多态性法确定MMP-9基因一1562C／T基因型。结果（1）高血压病合并主动脉夹层患者中,MMP-9基因一1562T等位基因频率（17．6％）显著高于高血压病患者（11．2％,P〈0．05）,两组之间3种基因型（-1562CC、-1562CT、-1562Tr）分布差异无统计学意义（P〉0．05）。（2）与-1562CC基因型相比,基因型为-1562CT／TT的主动脉夹层患者累及升主动脉更多见（OR=2．063,95％CI=0．998～4．264,P=0．049）。结论MMP-9基因-1562T多态性与中国汉族人群高血压病并主动脉夹层的发病可能相关,T等位基因可能是高血压病并发主动脉夹层的遗传易感因素之一;携带MMP-9基因-1562T等位基因的高血压病合并主动脉夹层患者更多累及升主动脉,影响预后。     

2009年云南省曲靖市富源县燃煤污染型氟中毒监测结果分析

目的 了解富源县燃煤污染型氟中毒病区的病情现状,掌握防氟措施落实情况,为制订地方性氟中毒防治措施提供依据.方法 2009年,在富源县富村镇大水井村委会小雨汪村、拖嘎村、沙良村3个病区村抽查105户居民,调查降氟炉灶使用质量和健康教育效果(为什么使用降氟炉灶的知晓率).在富村镇小雨汪村,采集20户居民室内储藏的辣椒和玉米,检测含氟量;按东、西、南、北、中抽查5户,每户各采集1次室内空气样品检测空气氟;检查当地出生的8～ 12周岁儿童氟斑牙患病情况;同时采集50人份8～ 12周岁儿童即时尿样测定尿氟;对当地居住5年以上超过30岁的成年人进行临床氟骨症和Ⅹ线氟骨症检查.结果 抽查105户居民,家中降氟炉灶的正确使用率为100％,为什么使用降氟炉灶知晓率为82.86％(87/105).共采集辣椒19份,含氟量在9.98～538.40 mg/kg,中位数为32.38 mg/kg,全部超标(1.5 mg/kg);采集玉米25份,含氟量在0.42～101.54 mg/kg,中位数为6.32 mg/kg,18份超标(1.0 mg/kg);采集空气6份,含氟量在0.000 98～ 0.003 33mg/m3,中位数为0.001 45 mg/m3;8～12岁儿童氟斑牙检出率为42.3％(22/52),尿氟为0.13 ～ 1.80 mg/L,几何均数为0.58 mg/L;成人临床氟骨症检出4人,检出率为2.46％(4/162),Ⅹ线检出5例,检出率为9.61％(5/52).结论 辣椒和玉米氟污染严重,应指导病区群众改变生活习惯,尽量减少氟污染.