Epstein P A, Kidd K K, Sparkes R S
Am J Med Genet. 1981;9(4):317-21. doi: 10.1002/ajmg.1320090408.
We have described a new hereditary physical urticaria, dermo-distortive urticaria (DDU) [1]. In an attempt to man the locus of this autosomal-dominant disorder and to further characterize it, a linkage analysis with 18 genetic markers was done. Close linkage of DDU with TCII, GALT, Gc, Fy, Kell, and Se was excluded. The most significant positive lod score was for the MNSs blood antigen system, which has a maximum lod score of 1.09 at theta = 0.24 for all 28 family members who were typed. Although close linkage with DDU is not demonstrated at any marker, this study illustrates how linkage analysis may prove to be of value in the characterization of newly discovered heritable disorders.
我们已经描述了一种新的遗传性物理性荨麻疹——皮肤变形性荨麻疹（DDU）[1]。为了确定这种常染色体显性疾病的基因位点并进一步对其进行特征描述，我们进行了一项使用18个遗传标记的连锁分析。DDU与TCII、GALT、Gc、Fy、Kell和Se的紧密连锁被排除。最显著的正连锁值分数是针对MNSs血型抗原系统，在对所有28名被分型的家庭成员进行分析时，在θ=0.24时最大连锁值分数为1.09。尽管在任何标记上都未证明与DDU紧密连锁，但这项研究说明了连锁分析在新发现的遗传性疾病特征描述中如何可能具有价值。
