神经管缺损的遗传流行病学与遗传咨询研究

来源 :当代医师杂志 | 被引量 : 0次 | 上传用户:liu8423824
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我们会同全国31所医院和研究所对我国神经管缺损(包括无脑儿与脊柱裂)的高发区和低发区进行了如下研究: 1、群体患病率:高发区患病率定为≥2.5‰,我组为2.69~11.60‰,分布于华东与华北(大连除外)。高发区与低发区内性比各为1:2.60与1:1.03。1980~87年高发区的神经管缺损患病率(‰)逐年为6.71、6.05、3.61、5.69、5.40、4.66、4.14及4.06,呈下降趋势。我组低发区患病率与世界大多数国家近似;略低于白人:与日本(0.57~0.83‰)接近。我组高发区患病率普遍高于国外,与英国和爱尔兰(2.95~10.40‰)接近,居世界第二。 2、亲属患病率:依741个家系调查,高发区与低发区同胞患病率各为10.00%与2.33%。于高发区,亲属患病率与疾病种类和性别间无显著关系;亲属与先证者病种一致与不同者各占26与18例,一致率达59.09%。 3、致病的环境因素:居住于气温较高,降雨量较多,饮食多样化,绿叶蔬菜、肉、鱼、虾较多的地区,患病率较低。高发区特点则为寒冷、干燥、饮食品种单调、杂粮与薯类较多,绿叶蔬菜与肉、鱼、虾较少,提示上述因素可能为致病的环境因素。 4、遗传度:修正后高发区与低发区的标化群体患病率分别为4.86‰(545/112092)与0.71‰(293/412544)。高发区中一级亲与三级亲的患病率各为8.52%(19/223)与0.83%(12/1 We will carry out the following studies with the high incidence areas and low incidence areas of neural tube defects (including anencephaly and spina bifida) in 31 hospitals and institutes throughout China: 1. Population prevalence: The prevalence in high incidence areas is defined as ≥ 2.5 ‰, my group is 2.69 ~ 11.60 ‰, distributed in East China and North China (except Dalian). The prevalences of high and low risk areas were 1: 2.60 and 1: 1 respectively. The prevalence of neural tube defects (‰) in high incidence areas from 1980 to 87 was 6.71, 6.05, 3.61, 5.69, 5.40, 4.66, 4.14 And 4.06, showing a downward trend. The prevalence of low-risk areas in our group is similar to that of most countries in the world; slightly lower than that of white people: it is close to that of Japan (0.57 ~ 0.83 ‰). The prevalence of high incidence in our group was generally higher than that of other countries, close to that of Britain and Ireland (2.95 ~ 10.40 ‰), ranking the second in the world. 2, Prevalence of relatives: According to the survey of 741 pedigrees, the prevalence of siblings in high incidence areas and low incidence areas were 10.00% and 2.33% respectively. In the high incidence area, the prevalence of relatives had no significant relationship with the type and gender of the disease. The consistency and difference between the relatives and probands were 26 and 18, respectively, with a concordance rate of 59.09%. 3, the pathogenic environmental factors: living in higher temperatures, more rainfall, diet diversification, green leafy vegetables, meat, fish, shrimp more areas, the lower prevalence. High-incidence areas are characterized by cold, dry, monotonous varieties of diet, grains and more potato, green leafy vegetables and meat, fish, shrimp less, suggesting that the above factors may be pathogenic environmental factors. 4. Heritability: The prevalences of the normalized groups in the high incidence areas and the low incidence areas after correction were 4.86 ‰ (545/112092) and 0.71 ‰ (293/412544), respectively. The prevalence of first-degree and third-degree relatives in high incidence areas were 8.52% (19/223) and 0.83% (12/1
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