【论著】平凉地区智力低下儿童遗传因素分析与危险因素调查

  09-06-15  

摘要目的调查平凉地区智力低下儿童发病的遗传因素及危险因素。方法以平凉地区为主，对来医院遗传室遗传咨询的智力低下儿童及父母作为调查对象，采取细胞遗传学和家系分析及抽样调查。结果智力低下形成因素复杂，经遗传因素分析，135例弱智儿童中，与遗传因素有关的45例，占33.33%。其中39例为异常染色体核型，检出率为28.89%，占遗传因素的86.67%，并且男患者多于女患者(25∶14)。由基因突变引起的智力低下6例，占遗传因素的13.33%。其它为非遗传因素引起的智力低下儿童。危险因素分析，有87.5%来自城市流动人口和农村人群，其发病因素与父母的文化程度、优生知识了解程度、旧传统思想影响度等有关。结论遗传因素、特别是染色体异常在智力低下形成因素中占有很重要的地位。产前诊断和优生优育宣传工作是防止由遗传因素引起的智力低下儿童的有效途径。
关键词智力低下遗传因素产前诊断
The heredity risks analysis and factors research of the mental retarded children in Pingliang area
LV ShaoyingZHANG Yingzhen
ABSTRACTObjectiveSurveying the heredity risks and the dangerous factors of the mental retarded children in Pingliang area.MethodsThe mental retarded children and their parents were analyzed by cell genetics and ancestry investigation. ResultsThe causes of the mental retarded in children were complicated. By analyzing the heredity risks, 45 patients from 135 the mental retarded children were positively related and the incidence rate was 33.33%. Thirtynine patients from the 45 patients were the exceptional chromosome karyotype and the incidence rate was 28.89%, 6 patients were with the gene mutation and the incidence rate was 13.33%. The prevalence in male was little higher than in femal. By analyzing the dangerous factors, 87.5% of the mental retarded children came from the nonresidental population of the city and the countryside. The causes were relate to the education and knowledge about healthy birth and child care, and traditional sacial concepts of their parents. ConclusionThe heredity risks, especially, the exceptional chromosome karyotype should be paid more attention. The diagnoses regularly before birth and the propaganda of healthy birth and child care were efficacious ways for preventing the mental retarded children from the heredity risks.
KEY WORDSMental retardationHeredity risksDiagnoses before birth

作者单位1. 甘肃平凉市人民医院遗传室
2. 甘肃平凉医学高等专科学校生物学教研室