白化病的遗传流行病学研究

本文应用分离分析和血缘分析方法，对山东省１００余万人群遗传病调查中发现的３７个白化病核心家系进行了分析。结果表明：白化病存在遗传异质性，为多基因常染色体隐性遗传，最小基因数为８，平均基因频率为０．００２３，群体中致病基因携带者频率为０．０３８３；近亲结婚大大提高白化病的患病率。

Study on Genetic Epidemiology of Albinism

Segregation analysis and consanguinity analysis were applied to 37 albinism families ascertained from Shandong province(P.R.China)to study the genetic heterogeneity of the disease.Our results show that albinism is an autosomal recessive disease with multilocus.The least number of the detrimental loci is 8,The average frequence of detrimental genes is 0.0023,and 3.83% individuals in general population are carriers.The incidence among the offsprings of the first cousin marriages would be 22 times higher than that in the general population.