[Refinement of DSAP1 locus and mutation detection for candidate genes].

Zheng-Hu Zhang, Zhen-Min Niu, Wen-Tao Yuan, Jing-Jun Zhao, Fa-Xing Jiang, Jing Zhang, Bao Chai, Xiao-Yan Xiong, Lei-Hong Xiang, Yi Wang, Shi-Jie Xu, Wei-Da Liu, Zhi-Zhong Zheng, Wei Huang
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Abstract

Disseminated superficial actinic porokeratosis (DSAP) is an uncommon autosomal dominant chronic keratinization disorder,characterized by multiple superficial keratotic lesions surrounded by a slightly raised keratotic border. In previous studies,the disease gene was mapped to 12q23. 2-24.1 (DSAP1), and 15q25. 1-26.1 (DSAP2). In this study,genome-wide scan was performed in two unrelated six-generation DSAP pedigrees to localize and identify the candidate gene(s) of disease. Linkage analysis showed that the cumulative maximum two-point lod score of 8.28 was obtained with the marker D12S84 at a recombination fraction theta of 0.00. Haplotype analysis defined an 8.0 cM critical region for DSAP gene(s) between markers D12S330 and D12S354 on 12q24. 1-q24. 2, which partially overlapped with the region identified for DSAP1. DNA sequencing of the coding exons of six candidate genes (CRY1, PWP1, ASCL4, PRDM4, KIAA0789 and CMKLR1) on the basis of their location in the critical overlap interval, failed to detect any mutation in DSAP patients. Thus, it is likely that these genes are not involved in DSAP.

[DSAP1基因座的改良及候选基因的突变检测]。
弥散性浅表性光化性角化病(DSAP)是一种罕见的常染色体显性慢性角化疾病,其特征是多个浅表性角化病变周围有轻微凸起的角化边界。在之前的研究中,疾病基因定位在12q23上。2-24.1 (DSAP1)和15q25。1 - 26.1 (DSAP2)。在这项研究中,对两个不相关的六代DSAP家系进行了全基因组扫描,以定位和鉴定疾病的候选基因。连锁分析表明,D12S84在重组分数θ为0.00时,累积最大两点负荷得分为8.28。单倍型分析在12q24上的D12S330和D12S354标记之间确定了一个8.0 cM的DSAP基因关键区域。1-q24。2,与DSAP1鉴定的区域部分重叠。6个候选基因(CRY1、PWP1、ASCL4、PRDM4、KIAA0789和CMKLR1)编码外显子的DNA测序,基于它们在关键重叠区间的位置,未能在DSAP患者中检测到任何突变。因此,这些基因很可能与DSAP无关。
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