Kennedy J L, Berg D, Bassett A S, Roy R, King N, Perkins M
Department of Psychiatry, University of Toronto, Ontario, Canada.
Am J Med Genet. 1995 Jan 30;55(3):307-10. doi: 10.1002/ajmg.1320550312.
Darier disease is an autosomal dominant skin disorder characterized by abnormal keratinocyte adhesion. Recent data have provided evidence for linkage of the Darier disease locus to 12q23-24.1 in British families. We have carried out linkage analysis using the 12q markers D12S58, D12S84, D12S79, D12S86, PLA2, and D12S63 in 6 Canadian families. Pairwise linkage analysis generated positive lod scores at all 6 markers at various recombination fractions, and each family showed positive lod scores with more than one marker. The peak lod score in the multipoint analysis (Zmax) was 5.5 in the interval between markers D12S58 and D12S84. These positive lod scores in North American families of varied European ancestry confirm the location of the Darier disease gene, and suggest genetic homogeneity. The future identification and sequencing of the gene responsible for Darier disease should lead to improved understanding of the disease and of keratinocyte adhesion in general.
毛囊角化病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异常。最近的数据表明，在英国家庭中，毛囊角化病基因座与12q23 - 24.1存在连锁关系。我们利用12q标记物D12S58、D12S84、D12S79、D12S86、PLA2和D12S63对6个加拿大家庭进行了连锁分析。两点连锁分析在不同重组率下的所有6个标记物处均产生了正连锁值，且每个家庭在不止一个标记物处显示出正连锁值。多点分析中的最高连锁值（Zmax）在标记物D12S58和D12S84之间的区间为5.5。这些在具有不同欧洲血统的北美家庭中的正连锁值证实了毛囊角化病基因的位置，并提示了基因同质性。未来对毛囊角化病相关基因的鉴定和测序应能增进对该疾病以及一般角质形成细胞黏附的理解。
