Itoh A, Takada A, Tokunaga K, Fujita J, Yamamoto M, Saito S, Yamaguchi E, Kawakami Y, Wakisaka A
First Department of Medicine, Hokkaido University School of Medicine, Sapporo.
Intern Med. 1994 Aug;33(8):508-11.
In this report, an apparently healthy 38-year-old woman with a remarkably low serum C4 value is described together with other family members who had moderately low serum C4. Plasma C4 typing disclosed that the proband inherited two C4B "null" haplotypes. In addition, Southern blot analysis of the C4 gene indicated that the C4A gene was partially deleted on one of these two haplotypes in the proband. We thus concluded that a de novo deletion on the inherited half-null haplotype was the likeliest cause of the low C4 level.
在本报告中，描述了一名血清C4值极低但外表健康的38岁女性以及其他血清C4值中度偏低的家庭成员。血浆C4分型显示，先证者继承了两个C4B“无效”单倍型。此外，对C4基因的Southern印迹分析表明，先证者这两个单倍型中的一个上的C4A基因部分缺失。因此，我们得出结论，遗传性半无效单倍型上的新生缺失是C4水平低的最可能原因。
