Borecki I B, Rao D C, Yaouanq J, Lalouel J M
Division of Biostatistics, Washington University School of Medicine, St. Louis, MO 63110.
Am J Med Genet. 1990 Jul;36(3):301-5. doi: 10.1002/ajmg.1320360311.
The segregation of genetic hemochromatosis was analyzed by using percent transferrin saturation (TS) as a phenotypic marker of the disease. Homozygotes for the disease were readily discernable with the added information provided by the quantitative indicator. However, there was no evidence of partial expression of TS abnormalities in heterozygotes, contrary to previous studies.
通过使用转铁蛋白饱和度百分比（TS）作为该疾病的表型标记，对遗传性血色素沉着症的遗传分离进行了分析。利用这一定量指标提供的额外信息，该病的纯合子很容易被识别出来。然而，与之前的研究相反，没有证据表明杂合子中存在TS异常的部分表达。
