12号染色体q23.2-24.1区域弥漫性浅表性光化性汗孔角化症位点的鉴定。
Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1.
作者信息
Xia J H, Yang Y F, Deng H, Tang B S, Tang D S, He Y G, Xia K, Chen S X, Li Y X, Pan Q, Long Z G, Dai H P, Liao X D, Xiao J F, Liu Z R, Lu C Y, Yu K P, Deng H X
机构信息
National Laboratory of Medical Genetics of China, Department of Neurology, Xiangya Hospital, Hunan Medical University, Changsha, China.
出版信息
J Invest Dermatol. 2000 Jun;114(6):1071-4. doi: 10.1046/j.1523-1747.2000.00978.x.
Disseminated superficial actinic porokeratosis is an autosomal dominant cutaneous disorder characterized by many uniformly small, minimal, annular, anhidrotic, and keratotic lesions. The genetic basis for this disease is unknown. Using a genomewide search in a large Chinese family, we identified a locus at chromosome 12q23.2-24. 1 responsible for disseminated superficial actinic porokeratosis. The fine mapping study indicates that the disseminated superficial actinic porokeratosis gene is located within a 9.6 cM region between markers D12S1727 and D12S1605, with a maximum two-point LOD score of 20.53 (theta = 0.00) at D12S78. This is the first locus identified for a genetic disease where the major phenotype is porokeratosis. The study provides a map location for isolation of a gene causing disseminated superficial actinic porokeratosis.
播散性浅表光化性汗孔角化症是一种常染色体显性遗传性皮肤病，其特征为出现许多大小一致、微小、环形、无汗且角化的皮损。该疾病的遗传基础尚不清楚。通过对一个中国大家庭进行全基因组搜索，我们在12号染色体q23.2-24.1区域确定了一个与播散性浅表光化性汗孔角化症相关的基因座。精细定位研究表明，播散性浅表光化性汗孔角化症基因位于标记D12S1727和D12S1605之间9.6 cM的区域内，在D12S78处的最大两点连锁对数得分为20.53（θ = 0.00）。这是首个为以汗孔角化症为主要表型的遗传性疾病确定的基因座。该研究为分离导致播散性浅表光化性汗孔角化症的基因提供了图谱定位。
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