Hereditary hemochromatosis. Analysis of laboratory expression of the disease by genotype in 18 pedigrees.
Hereditary hemochromatosis. Analysis of laboratory expression of the disease by genotype in 18 pedigrees.
复制标题
遗传性血色病。
DOI：
10.1093/ajcp/78.2.196
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发表时间：
1982
影响因子：
3.5
通讯作者：
Skolnick,MH
中科院分区：
文献类型：
--
作者：
Dadone,MM;Kushner,JP;Edwards,CQ;Bishop,DT;Skolnick,MH
血色素沉着症位点和HLA区域之间的紧密联系使得血色素沉着症家系成员的基因型测定成为可能。为了确定简单的实验室铁代谢测量是否可以在不需要HLA分型的情况下预测受影响的基因型，我们研究了7种铁代谢测量：血清铁浓度、总铁结合能力、转铁蛋白饱和度百分比、血清铁蛋白浓度、去铁胺诱导的尿铁排泄和肝脏铁浓度，通过化学和组织学方法进行评估。判别分析表明，转铁蛋白饱和度高于62%是受影响基因型的最佳简单测量指标：纯合性在92%的病例中得到准确预测。血清铁蛋白浓度的对数变换准确率仅为71%。系谱分析估计血色素沉着症基因的频率为0.069±0.020，与HLA区域的重组概率为0.015±0.015。这相当于杂合子频率为0.13，疾病频率为0.005。
Tight linkage between the hemochromatosis locus and the HLA region permits determination of genotype in members of hemochromatosis pedigrees. To determine if simple laboratory measures of iron metabolism could predict the affected genotype without the heed for HLA typing, we studied seven measures of iron metabolism: serum iron concentration, total iron-binding capacity, per cent saturation of transferrin, serum ferritin concentration, deferoxamine-induced urinary iron excretion and hepatic iron concentration evaluated by both chemical and histological methods. Discriminant analysis showed a per cent saturation of transferrin above 62% to be the best simply-measured indicator of the affected genotype: homozygosity is accurately predicted in 92% of the cases. The logarithmic transform of serum ferritin concentration was only 71% accurate. Pedigree analysis estimated the frequency of the hemochromatosis gene at 0.069 ± 0.020 with a recombination probability of 0.015 ± 0.015 with the HLA region. This corresponds to a heterozygote frequency of 0.13 and a disease frequency of 0.005.