Department of Dermatology, Huashan Hospital, Shanghai Medical College, Fudan University, 200040 Shanghai, China.
Hum Genet. 2011 Mar;129(3):329-34. doi: 10.1007/s00439-010-0929-x. Epub 2010 Dec 14.
Disseminated superficial actinic porokeratosis (DSAP) is an uncommon autosomal dominant keratinization disorder with genetic heterogeneity characterized by multiple superficial keratotic lesions surrounded by a slightly raised keratotic border. Thus far, there have been three susceptible loci determined for DSAP and one locus for disseminated superficial porokeratosis (DSP), i.e. 12q23.2-24.1, 15q25.1-26.1, 1p31.3-p31.1 and 18p11.3. Moreover, the locus for porokeratosis palmaris plantaris et disseminata (PPPD) was mapped to 12q24.1-24.2, which overlapped with the first DSAP locus. Following the exclusion of these known loci in a four-generation Chinese DSAP family, we performed a genome-wide linkage analysis and identified a new locus on chromosome 16q24.1-24.3. The maximum two-point LOD score of 3.73 was obtained with the marker D16S3074 at a recombination fraction θ of 0.00. Haplotype analysis defined the critical 17.4-cM region for DSAP between D16S3091 and D16S413. This is regarded to be the forth locus for DSAP (DSAP4). ATP2C1 was sequenced as a candidate gene, however, no mutation was found. Further investigation for the genetic basis of DSAP is under way.
播散性浅表性光线性角化病（DSAP）是一种罕见的常染色体显性角化异常疾病，具有遗传异质性，其特征为多个浅表角化病变，周围有轻微隆起的角化边界。迄今为止，已经确定了 DSAP 的三个易感位点和一个播散性浅表性光线性角化病（DSP）的位点，即 12q23.2-24.1、15q25.1-26.1、1p31.3-p31.1 和 18p11.3。此外，掌跖部播散性光线性角化病（PPPD）的位点被定位到 12q24.1-24.2，与第一个 DSAP 位点重叠。在排除了一个四代中国 DSAP 家族中的这些已知位点后，我们进行了全基因组连锁分析，并在 16q24.1-24.3 染色体上确定了一个新的位点。最大两点 LOD 得分为 3.73，标记 D16S3074 的重组分数θ为 0.00。单体型分析确定了 D16S3091 和 D16S413 之间 DSAP 的关键 17.4-cM 区域。这被认为是 DSAP 的第四个位点（DSAP4）。对 ATP2C1 进行了测序作为候选基因，但未发现突变。正在进行 DSAP 的遗传基础的进一步研究。
