新疆维吾尔儿童亚克汀病流行的影响因素及易感基因研究

Subclinical cretinism is a kind of disease which could lead to mildly lower brain development and thyroid function.The main feature of it is mental retardation,which could affect quality of the population,worse still,the incidence of it is much higer than that of the typical cretinism and has become one of serious public health problems..The cause of subclinical cretinism is still not full understood.Study about the susceptibility genes for the mental retardation in sub-cadine disease among the minority still have not been reported..To the situation that subclinical cretinism popularing among Uygur children in south area of xinjiang,we used environmental epidemiological investigations to the children suffering subclinical cretinism disease according to different extend of iodine deficiency in different prevalence area in south area of xinjiang.Using molecular biology methods,from genetic point of view,explore relationgship between ILIRAP1gene and PPAR-β gene polymorphism and mental retardation in subclinical cretinism in the Urgur children. At the same time,we would analyse the interaction between environmental iodine,genetic factor and subclinical cretinism.This research could help clarify the pathological mechanisms of subclinical cretinism ,provide theoretical basis to provent occurrence of subclinical cretinism,reduce family and social burden caused by it.

亚临床克汀病是缺碘引起轻度脑发育障碍和甲功低下，常以轻度智力落后、精神发育迟滞为主要特征，影响人口素质，发病比例远大于地方性克汀病，构成了严重的公共卫生问题。目前此病的病因尚不完全清楚，针对少数民族亚克汀病精神发育迟滞的易感基因的研究未见报道。.本项研究针对当前新疆南部碘缺乏病区维吾尔族儿童亚克汀病流行的问题，拟对新疆南部碘缺乏病不同流行程度的地区亚临床克汀病患者儿童开展流行病学调查，利用分子生物学手段，从遗传学角度探讨ILIRAP1基因和PPAR-β基因多态性对亚临床克汀病维吾尔族儿童精神发育迟滞的影响；分析环境因素、遗传因素与亚临床克汀病的交互作用。开展此项研究将有助于阐明临床亚克汀病的发病机制，为亚克汀病患儿早期预防与康复干预提供依据，减轻此病引起的家庭和社会的疾病负担。

摘要.亚临床克汀病是缺碘引起轻度脑发育障碍和甲功低下，常以轻度智力发育、精神发育迟滞为主要特征，影响人口素质，发病比例远大于地方性克汀病，构成了严重的公共卫生问题。针对新疆南部维吾尔族儿童亚克汀病流行问题在既往碘缺乏病严重流行区开展了流行病学调查研究。显示　调查7 ～ 14 岁维吾尔族儿童1016名 , 平均智商( IQ) , 其中IQ 55 ～ 69 者148人 , 查出精神运动障 碍106例 。 1016名少数民族儿童中 , 轻度智力落后兼有精神运动障碍者 106 例 , 由此估算亚克汀病患病率为10.43%。利用分子生物学手段从遗传学角度探讨PPAR-和ILIRAP1基因多态性对精神发育迟滞的影响。为亚克汀病患儿早期预防与康复提供依据。