Ikeda S, Welsh E A, Peluso A M, Leyden W, Duvic M, Woodley D T, Epstein E H
Department of Dermatology, University of California at San Francisco.
Hum Mol Genet. 1994 Jul;3(7):1147-50. doi: 10.1093/hmg/3.7.1147.
Hailey-Hailey disease (familial benign chronic pemphigus) is an autosomal dominant skin disease characterized by impaired keratinocyte cohesion and consequent blister formation. In the present study we have used linkage analysis to map the gene for this disease to a region of chromosome 3q between D3S1589 and D3S1316. The maximum combined two point lod score in four families studied was 14.60 at theta = 0 at the D3S1290 microsatellite repeat. These findings suggest the presence of a gene not previously known to be involved in keratinocyte cohesion at this site.
黑利-黑利病（家族性良性慢性天疱疮）是一种常染色体显性遗传性皮肤病，其特征为角质形成细胞黏附功能受损并由此形成水疱。在本研究中，我们运用连锁分析将该疾病的基因定位于3号染色体q臂上位于D3S1589和D3S1316之间的区域。在所研究的四个家族中，在D3S1290微卫星重复序列处，θ = 0时最大两点连锁lod值为14.60。这些发现表明在此位点存在一个先前未知与角质形成细胞黏附相关的基因。
