Borecki I B, Rao D C, Le Mignon L, Yaouanq J, Simon M, Lalouel J M
Division of Biostatistics, Washington University School of Medicine, St. Louis, MO 63110.
Am J Med Genet. 1989 Nov;34(3):435-41. doi: 10.1002/ajmg.1320340321.
Six laboratory measures of iron metabolism were studied in a control sample, and a family sample was ascertained on the basis of probands with clinically diagnosed genetic hemochromatosis. The respective distribution of each variable evidenced a mixture of components, presumably arising from the segregation of an HLA-linked locus for hemochromatosis. There were significant differences in the distributional characteristics with respect to sex and genotype-specific variances. These aspects of the data have important implications for subsequent segregation and linkage analyses, which traditionally assume homoscedasticity and homogeneity of the genetic effect.
在一个对照样本中研究了六项铁代谢的实验室指标，并基于临床诊断为遗传性血色素沉着症的先证者确定了一个家系样本。每个变量的各自分布证明了成分的混合，推测这是由于血色素沉着症的一个与HLA连锁的基因座的分离所致。在性别和基因型特异性方差方面，分布特征存在显著差异。数据的这些方面对后续的分离分析和连锁分析具有重要意义，而传统上这些分析假定遗传效应具有同方差性和同质性。
