Gong Y, Shao C, Zheng H, Chen B, Guo Y
Laboratory of Medical Genetics, Shandong Medical University.
Yi Chuan Xue Bao. 1994;21(3):169-72.
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.
对从中国山东省确定的37个白化病家族进行了分离分析和近亲结婚分析，以研究该疾病的遗传异质性。我们的结果表明，白化病是一种具有多个位点的常染色体隐性疾病。有害位点的最少数量为8个，有害基因的平均频率为0.0023，普通人群中3.83%的个体为携带者。一级表亲结婚后代的发病率比普通人群高22倍。
