Gordeuk V R, McLaren C E, Looker A C, Hasselblad V, Brittenham G M
Department of Medicine, The George Washington University Medical Center, Washington D.C., USA.
Blood. 1998 Mar 15;91(6):2175-9.
To determine if transferrin saturations in African Americans may reflect the presence of a gene that influences iron metabolism, we analyzed the distribution of these values in 808 African Americans from the second National Health and Nutrition Survey. We tested for a mixture of three normal distributions consistent with population genetics for a major locus effect in which the proportion of normal homozygotes is p2; of heterozygotes, 2pq; of affected homozygotes, q2; and in which p+q = 1. Three subpopulations based on transferrin saturation were present (P < .0001) and the fit to a mixture of three normal distributions was good (P = .2). A proportion of .009 was included in a subpopulation with a mean +/- standard deviation transferrin saturation of 63.4% +/- 5.7% (postulated homozygotes for a gene that influences iron metabolism), while a proportion of .136 had an intermediate saturation of 38.0% +/- 5.7% (postulated heterozygotes) and .856 a saturation of 24.6% +/- 5.7% (postulated normal homozygotes). These proportions were consistent with population genetics because the sum of the square roots of the proportions with the lowest mean transferrin saturation (P = .925) and the highest (q = 0.093) was approximately 1 (1.018). The results are consistent with the presence in African Americans of a common locus that influences iron metabolism.
为了确定非裔美国人的转铁蛋白饱和度是否可能反映影响铁代谢的基因的存在，我们分析了来自第二次全国健康和营养调查的808名非裔美国人这些数值的分布情况。我们针对与群体遗传学一致的三个正态分布的混合情况进行了检验，以确定一个主要基因座效应，其中正常纯合子的比例为p²；杂合子为2pq；患病纯合子为q²；且p + q = 1。基于转铁蛋白饱和度存在三个亚群（P <.0001），并且与三个正态分布的混合拟合良好（P =.2）。一个亚群中包含比例为.009的个体，其转铁蛋白饱和度的均值±标准差为63.4%±5.7%（推测为影响铁代谢基因的纯合子），而比例为.136的个体具有38.0%±5.7%的中间饱和度（推测为杂合子），.856的个体饱和度为24.6%±5.7%（推测为正常纯合子）。这些比例与群体遗传学一致，因为最低平均转铁蛋白饱和度的比例（p =.925）和最高平均转铁蛋白饱和度的比例（q = 0.093）的平方根之和约为1（1.018）。结果表明非裔美国人中存在一个影响铁代谢的常见基因座。
