摘要
目的分析9例中国汉族播散性浅表性光化性汗孔角化症（disseminated superfacial actinic porokeratosis，DSAP）患者的临床表型和遗传学特点。方法收集1个中国汉族DSAP家系（5例患者）和4例DSAP散发病例及120名无亲缘关系的正常对照血样提取外周血DNA，应用PCR扩增产物直接测序法对甲羟戊酸通路中MVK、MVD、PMVK、FDPs4个基因以及SLC17A9、SSH1、SART3基因进行突变分析。同时，应用SIFT、Polyphen-2评分来评估基因突变的致病性。结果在5例家系病例以及2例散发病例均检测到MVD基因的C．746T〉C突变，在另1例散发病例检测到MVD基因C．875A〉G突变；其他基因均未检测到突变位点。通过评分发现MVD基因的c．746T〉C和c．875A〉G突变均具有致病性。结论DSAP发病主要与MVD基因的两个热点突变C．746T〉C和C．875A〉G相关；MVD基因的C．746T〉C和C．875A〉G突变均可致病；DSAP患者的发疹与目光存在明显相关性，但不同患者之间可存在明显差异。
Objective To analyze the clinical and genetic features of 9 ethnic Han Chinese patients with disseminated superfacial actinic porokeratosis （DSAP）. Methods Genomic DNA was extracted from peripheral blood samples collected from the patients. PCR and direct sequencing were carried out for five patients from a family, 4 sporadic cases, and 120 healthy controls to identify potential mutations of four genes （MVK, MVD, PMVK, FDPS） involved in the mevalonate pathway as well as SLC17Ag, SSHJ, and SART3 genes. Pathogenecity of suspected mutations were assessed with SIFT, and Polyphen-2 scores. Results A c. 746T〉C mutation was identified in the family and two sporadic cases, while a c. 875A〉G mutation was identified in another sporadic case. No mutation was identified in the remainder genes among all patients. Scoring has suggested that the c. 746T〉C and c. 875A〉G mutations of the MVD gene are probably pathogenic. Conclusion c. 746 T〉 C and c. 875A〉 G of the MVD gene are most common mutations. Skin rashes of the patients have a strong connection with the sunlight, albeit a significant difference among patients was discovered.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2017年第4期481-485,共5页
Chinese Journal of Medical Genetics
