Dunnette S L, Gleich G J, Weinshilboum R M
J Clin Invest. 1978 Aug;62(2):248-55. doi: 10.1172/JCI109123.
Previous studies have shown that log IgD levels in normal individuals are distributed in a nonunimodal manner. Therefore, in this study we tested whether inheritance might play a role in determination of IgD levels. IgD levels were measured in serum or plasma from 301 randomly selected children aged 6-18 yr, 245 consecutive adult blood donors, and 134 first-degree relatives of subjects with low IgD levels. Comparison of serum and plasma from five individuals revealed no difference, so the two were used interchangeably. The distributions of log IgD levels in randomly selected populations of both adults and children were nonunimodal with nadirs at 2.15 IU/ml. In both of these randomly selected populations, 13-14% of the subjects had low IgD values (<2.15 IU/ml). In addition, there was a significant sibling-sibling correlation of log IgD values (r = 0.56, n = 72, P <0.01). Because of the nonunimodality of the frequency distribution histogram for IgD values and because of the familial aggregation of these values, the study was extended to include first-degree relatives of subjects with low plasma IgD. Blood samples from 92% of living first-degree relatives, 134 individuals, were analyzed for their level of IgD, and the results of segregation and pedigree analyses of these data were compatible with autosomal recessive inheritance of an allele for low plasma IgD levels. IgD values in plasma from siblings of probands for low IgD were also non-unimodal in distribution with a nadir at congruent with2.15 IU/ml. The results suggest that there is autosomal recessive inheritance of an allele for low plasma IgD.
先前的研究表明,正常个体的log IgD水平呈非单峰分布。因此,在本研究中,我们测试了遗传因素在IgD水平的决定中是否起作用。我们测量了301名随机选择的6至18岁儿童、245名连续的成年献血者以及134名低IgD水平受试者的一级亲属的血清或血浆中的IgD水平。对五名个体的血清和血浆进行比较,结果显示无差异,因此二者可互换使用。在随机选择的成人和儿童群体中,log IgD水平的分布均为非单峰,最低点为2.15 IU/ml。在这两个随机选择的群体中,13%-14%的受试者IgD值较低(<2.15 IU/ml)。此外,log IgD值在兄弟姐妹之间存在显著相关性(r = 0.56,n = 72,P <0.01)。由于IgD值的频率分布直方图呈非单峰性,且这些值存在家族聚集性,该研究扩展至纳入低血浆IgD受试者的一级亲属。对134名在世的一级亲属(占92%)的血样进行了IgD水平分析,这些数据的分离和系谱分析结果与低血浆IgD等位基因的常染色体隐性遗传相符。低IgD先证者的兄弟姐妹血浆中的IgD值分布也呈非单峰,最低点与2.15 IU/ml一致。结果表明,存在低血浆IgD等位基因的常染色体隐性遗传。