中国地方病学杂志
中國地方病學雜誌
중국지방병학잡지
CHINESE JOURNAL OF ENDEMIOLOGY
2012年
4期
369-372
,共4页
唐莉%王三祥%钟近洁%张跃新%白生宾%张亚楼%刘开泰
唐莉%王三祥%鐘近潔%張躍新%白生賓%張亞樓%劉開泰
당리%왕삼상%종근길%장약신%백생빈%장아루%류개태
氟%基因,胶原Ⅸ型%多态性,单核苷酸
氟%基因,膠原Ⅸ型%多態性,單覈苷痠
불%기인,효원Ⅸ형%다태성,단핵감산
Fluorine%Genes,collagen type Ⅸ%Polymorphism,single nucleotide
目的 观察氟中毒患者COLIXA3基因多态性,探讨COLIXA3基因在地方性氟中毒发病机制中的作用.方法 在山西省忻州市,选取51例饮水型氟中毒患者作为病例组,28例健康居民作为对照组,用Dean法检测氟斑牙,X线拍片检测氟骨症,PCR法扩增血清COLIXA3第5外显子103位点基因产物,测序后分析该基因位点的基因型.结果 病例组51例患者中检出轻度氟斑牙10例,中度氟斑牙14例,重度氟斑牙15例,对照组无氟斑牙检出.病例组51例患者均有不同程度氟骨症表现,以骨质硬化型损害为主,占86.27％(44/51),且轻度氟骨症患者均为骨质硬化型损害,而中度和重度氟骨症患者表现为骨质硬化型和混合型损害；对照组未见氟骨症发生.病例组COLIXA3基因第5外显子103位点AA、Aa、aa 基因型分布频率[96.08％( 49/51)、3.92％(2/51)、0.00％(0/51)]与对照组[96.43％(27/28)、3.57％(1/28)、0.00％(0/28)]比较,差异无统计学意义(x2=0.94,P＞ 0.05).结论 COLIXA3基因第5外显子基因多态性与氟中毒的发生未见明显关联.
目的 觀察氟中毒患者COLIXA3基因多態性,探討COLIXA3基因在地方性氟中毒髮病機製中的作用.方法 在山西省忻州市,選取51例飲水型氟中毒患者作為病例組,28例健康居民作為對照組,用Dean法檢測氟斑牙,X線拍片檢測氟骨癥,PCR法擴增血清COLIXA3第5外顯子103位點基因產物,測序後分析該基因位點的基因型.結果 病例組51例患者中檢齣輕度氟斑牙10例,中度氟斑牙14例,重度氟斑牙15例,對照組無氟斑牙檢齣.病例組51例患者均有不同程度氟骨癥錶現,以骨質硬化型損害為主,佔86.27％(44/51),且輕度氟骨癥患者均為骨質硬化型損害,而中度和重度氟骨癥患者錶現為骨質硬化型和混閤型損害；對照組未見氟骨癥髮生.病例組COLIXA3基因第5外顯子103位點AA、Aa、aa 基因型分佈頻率[96.08％( 49/51)、3.92％(2/51)、0.00％(0/51)]與對照組[96.43％(27/28)、3.57％(1/28)、0.00％(0/28)]比較,差異無統計學意義(x2=0.94,P＞ 0.05).結論 COLIXA3基因第5外顯子基因多態性與氟中毒的髮生未見明顯關聯.
목적 관찰불중독환자COLIXA3기인다태성,탐토COLIXA3기인재지방성불중독발병궤제중적작용.방법 재산서성흔주시,선취51례음수형불중독환자작위병례조,28례건강거민작위대조조,용Dean법검측불반아,X선박편검측불골증,PCR법확증혈청COLIXA3제5외현자103위점기인산물,측서후분석해기인위점적기인형.결과 병례조51례환자중검출경도불반아10례,중도불반아14례,중도불반아15례,대조조무불반아검출.병례조51례환자균유불동정도불골증표현,이골질경화형손해위주,점86.27％(44/51),차경도불골증환자균위골질경화형손해,이중도화중도불골증환자표현위골질경화형화혼합형손해；대조조미견불골증발생.병례조COLIXA3기인제5외현자103위점AA、Aa、aa 기인형분포빈솔[96.08％( 49/51)、3.92％(2/51)、0.00％(0/51)]여대조조[96.43％(27/28)、3.57％(1/28)、0.00％(0/28)]비교,차이무통계학의의(x2=0.94,P＞ 0.05).결론 COLIXA3기인제5외현자기인다태성여불중독적발생미견명현관련.
Objective To study the COLIXA3 gene polymorphism of patients with fluorosis and to explore the pathogenesis of COLIXA3 gene in endemic fluorosis.Methods Fifty one cases of patients with drinking-water borne fluorosis were selected as the case group in Xinzhou city,Shanxi province and 28 cases of healthy people were as the control group.Dental fluorosis was detected by Dean method and skeletal fluorosis was examined by X-ray.COLIXA3 of exon 5 gene product of 103 points was amplified by PCR and the gene locus genotype was sequenced.Results Ten cases of mild dental fluorosis,14 cases of moderate dental fluorosis,15 cases of severe dental fluorosis were detected among the 51 patients.The control group was free of dental fluorosis.All the 51 cases of patients with fluorosis had varying degrees of skeletal fluorosis,mainly osteosclerosis lesions,accounting for 86.27％(44/51 ),and mild skeletal fluorosis patients were all osteosclerosis lesions,and osteosclerosis lesions and multiple skeletal lesions were found among moderate and severe skeletal fluorosis patients in the case group,while control group had no skeletal fluorosis.The differences between genotypes of frequency distribution of AA,Aa,aa of COLIXA3 of case and control groups were not statistically significant [96.08％(49/51 ),3.92％(2/51 ),0.00％(0/51) and 96.43％(27/28),3.57％(1/28),0.00％(0/28),x2 =0.94,P ＞ 0.05].Conclusions COLIXA3 gene polymorphism is not significantly correlated to fluorosis.
