Xia K, Deng H, Xia J H, Zheng D, Zhang H L, Lu C Y, Li C Q, Pan Q, Dai H P, Yang Y F, Long Z G, Deng H X
National Laboratory of Medical Genetics, Department of Dermatology, Xiangya Hospital, Changsha, Hunan 410078, China.
Br J Dermatol. 2002 Oct;147(4):650-4. doi: 10.1046/j.1365-2133.2002.05058.x.
Disseminated superficial actinic porokeratosis (DSAP) is a chronic cutaneous disorder characterized by multiple superficial keratotic lesions surrounded by a slightly raised keratotic border. It develops in teenagers in sun-exposed areas of skin and usually follows an autosomal dominant inheritance pattern. The first locus for DSAP was localized to chromosome 12q23.2-24.1, but no gene responsible for porokeratosis has been identified to date.
To determine whether DSAP is a genetically heterogeneous disorder and to identify the disease gene locus in a three-generation Chinese family with DSAP.
Genetic linkage analysis was carried out in this family using 15 microsatellite markers between D12S1671 and D12S369 on chromosome 12q, followed by a genome-wide scan with 382 microsatellite markers from the autosomes.
Genetic linkage analysis with chromosome 12q markers suggested that the locus in this family is not linked to chromosome 12q. A genome-wide scan and fine mapping finally localized the locus for DSAP in this family to a 6.4-cM region between markers D15S1023 and D15S1030 at chromosome 15q25.1-26.1. This DSAP locus was named DSAP2.
The previous results and this study have shown that DSAP is a genetically heterogeneous disorder; a novel locus for DSAP, termed DSAP2, was mapped to a 6.4-cM region between markers D15S1023 and D15S1030.
播散性浅表性光化性汗孔角化症（DSAP）是一种慢性皮肤疾病，其特征为多个浅表角化性损害，周围有轻微隆起的角化性边缘。它在青少年的皮肤暴露部位发病，通常遵循常染色体显性遗传模式。DSAP的第一个基因座定位于12号染色体q23.2 - 24.1，但迄今为止尚未鉴定出导致汗孔角化症的基因。
确定DSAP是否为基因异质性疾病，并在一个三代中国DSAP家系中鉴定疾病基因座。
使用位于12号染色体q上D12S1671和D12S369之间的15个微卫星标记对该家系进行遗传连锁分析，随后用来自常染色体的382个微卫星标记进行全基因组扫描。
用12号染色体q标记进行的遗传连锁分析表明，该家系中的基因座与12号染色体q不连锁。全基因组扫描和精细定位最终将该家系中DSAP的基因座定位于15号染色体q25.1 - 26.1上标记D15S1023和D15S1030之间的一个6.4厘摩区域。这个DSAP基因座被命名为DSAP2。
先前的结果和本研究表明DSAP是一种基因异质性疾病；一个新的DSAP基因座，称为DSAP2，被定位于标记D15S1023和D15S1030之间的一个6.4厘摩区域。
