Humphries S E, Donald J A, McFadden J J, Shull S, Williamson R, Jowett N I, Galton D J, Julsrud J O, Berg K, Heiberg A
Atherosclerosis. 1984 Sep;52(3):267-78. doi: 10.1016/0021-9150(84)90056-x.
We have used DNA and protein polymorphisms for the third complement component (C3) to assess the potential of DNA markers in the diagnosis and study of familial hypercholesterolaemia (FH), and to confirm the reported linkage between FH and C3. The inheritance of FH and the C3 gene has been studied in 10 families by combining information from both the protein and DNA polymorphisms. Our results confirm that the C3 gene is loosely linked to the gene causing FH (lod score maximum of 2.0) at a recombination distance of 0.15. When these results are combined with previously published data the overall lod score maximum is 4.75 at a recombination distance of 0.2, meaning that the two genes will be inherited together in only about 80% of children. These results confirm that the gene that causes familial hypercholesterolaemia is linked to C3 and is therefore on chromosome 19, but C3 is not close enough to be used as a diagnostic marker.
我们利用第三补体成分（C3）的DNA和蛋白质多态性来评估DNA标记物在家族性高胆固醇血症（FH）诊断和研究中的潜力，并证实所报道的FH与C3之间的连锁关系。通过整合蛋白质和DNA多态性的信息，对10个家族中的FH和C3基因的遗传情况进行了研究。我们的结果证实，C3基因与导致FH的基因存在松散连锁（最大lod分数为2.0），重组距离为0.15。当将这些结果与先前发表的数据相结合时，在重组距离为0.2时，总体最大lod分数为4.75，这意味着这两个基因在仅有约80%的子代中会一起遗传。这些结果证实，导致家族性高胆固醇血症的基因与C3连锁，因此位于19号染色体上，但C3距离不够近，无法用作诊断标记物。
