九例播散性浅表性光化性汗孔角化症患者临床表型及遗传学分析
发布时间：2018-08-11 18:32
【摘要】：背景 汗孔角化症(porokeratosis,PK)是一种遗传性的角化不全性皮肤病,属于常染色体显性遗传,也是一种单基因遗传性皮肤疾病。根据其皮损的分布、皮损的形以及临床过程的不同,将汗孔角化症公认地分为五种临床类型,分别为:Mibelli汗孔角化症(plaque type of Mibelli,PM)、线状汗孔角化症(liner porokeratosis,LP)、播散性表浅性汗孔角化症(disseminated superficial form of porokeratosis,DSP)、播散性浅表性光化性汗孔角化症(disseminated superficial actinic form of porokeratosis,DSAP)、播散性掌跖汗孔角化症(porokeratosis palmaris plantaris et disseminated,PPPD)。其中,最为常见的临床类型为播散性浅表性光化性汗孔角化症(DSAP)。然而,迄今为止引起该病的致病基因仍未完全研究明了。本研究对1例家系(5个患者)和4例散发的中国汉族DSAP患者进行基因检测,同时将对DSAP患者的临床表型和遗传学特点进行分析。目的 分析九例中国汉族播散性浅表性光化性汗孔角化症(DSAP)患者的临床表型和遗传学特点。方法 收集中国汉族1个DSAP家系(5个患者)和4个DSAP散发患者及120名无亲缘关系的健康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、FDPS四个基因以及SLC17A9、SSH1、SART3基因进行突变分析;同时总结分析迄今所有报道的中国汉族人DSAP相关的基因突变。结果 在家系内以及2例散发DSAP患者中均检测到MVD基因的突变c.746TC,在另1例散发患者的M迄VD基因内检测到c.875AG突变,所有患者在其他基因内均未发现任何突变位点;综述所有相关报道,发现迄今共报道了45个与中国汉族人DSAP相关的致病突变,MVK、MVD、SSH1、SLC17A9、SART3、FPDS基因的突变比率分别为60.3%、27.6%、5.2%、3.4%、1.7%、1.7%;其中MVD基因内c.746TC、c.875AG突变的比率分别是56.3%、25%;临床表型方面,96.9%的皮损分布于曝光部位,家系病例占65.5%,发病年龄在21~40岁之间者占62.1%。结论 本研究进一步证实甲羟戊酸通路基因的突变与中国汉族人DSAP的发病有关,其中以MVK基因发生突变最为常见,MVD次之,且MVD基因存在热点突变位点c.746TC和c.875AG;DSAP的皮损表浅播散、广泛分布于暴光部位,通过对本研究中患者的表型分析证实发疹与日光存在明显相关性,但不同患者之间可存在明显差异。
[Abstract]:Background porokeratosis PK is an inherited keratosis skin disease, which belongs to autosomal dominant inheritance and is also a single gene hereditary skin disease. According to the distribution of the lesions, the shape of the lesions and the different clinical processes, porokeratosis is generally classified into five clinical types. They were (plaque type of Mibellitis (plaque type of), liner porokeratosis (LP), (disseminated superficial form of porokeratosissis (disseminated superficial form of), (disseminated superficial actinic form of porokeratosissis (DSAP) and (porokeratosis palmaris plantaris et dissected (PPP). The most common clinical type is disseminated superficial actinic porokeratosis (DSAP). However, the genes responsible for the disease have not been fully studied so far. In this study, one family member (5 patients) and four sporadic Chinese Han patients with DSAP were detected by gene analysis. The clinical phenotypic and genetic characteristics of DSAP patients were also analyzed. Objective to analyze the clinical phenotypic and genetic characteristics of nine cases of disseminated superficial actinic porokeratosis (DSAP) in Chinese Han nationality. Methods Peripheral blood samples from 1 DSAP family (5 patients), 4 sporadic DSAP patients and 120 unrelated healthy controls were collected from Chinese Han nationality. PCR amplification products were directly sequenced to determine MVKG MVDX PMVKnFDPS4 in the medoxylic acid pathway. The mutation of SLC17A9 and SSH1-SART3 gene was analyzed. At the same time, all reported mutations related to DSAP in Chinese Han population were summarized and analyzed. Results the mutation of MVD gene c. 746 TC was detected in the home system and in 2 sporadic DSAP patients. The c.875AG mutation was detected in the M to VD gene of another sporadic patient. No mutation site was found in all the other genes. Summarizing all relevant reports, A total of 45 pathogenetic mutations related to DSAP were reported in Chinese Han nationality. The mutation rates of MVKC / MVD1 / SSH1 / SLC17A9 / SART3 / FPDS gene were 60.327.27.65.2and 1.7A = 1.7.The mutation rate of MVD gene in c. 746TCCn. 875AG was 56.3x255AG, respectively. In clinical phenotype, 96.9% of the skin lesions were distributed in the exposed site. 65.5 cases were found in families and 62.1% in those aged between 21 and 40 years old. Conclusion this study further confirmed that the mutation of mevalic acid pathway gene was related to the pathogenesis of DSAP in Chinese Han nationality. The most common mutation in MVK gene was MVD, and there were hot spot mutation sites c.746TC and c.875 AGDSAP in MVD gene. The phenotypic analysis of the patients in this study confirmed that there was a significant correlation between rash and sunlight, but there were significant differences among different patients.
【学位授予单位】：安徽医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R758.5
本文编号：2177860
[Abstract]:Background porokeratosis PK is an inherited keratosis skin disease, which belongs to autosomal dominant inheritance and is also a single gene hereditary skin disease. According to the distribution of the lesions, the shape of the lesions and the different clinical processes, porokeratosis is generally classified into five clinical types. They were (plaque type of Mibellitis (plaque type of), liner porokeratosis (LP), (disseminated superficial form of porokeratosissis (disseminated superficial form of), (disseminated superficial actinic form of porokeratosissis (DSAP) and (porokeratosis palmaris plantaris et dissected (PPP). The most common clinical type is disseminated superficial actinic porokeratosis (DSAP). However, the genes responsible for the disease have not been fully studied so far. In this study, one family member (5 patients) and four sporadic Chinese Han patients with DSAP were detected by gene analysis. The clinical phenotypic and genetic characteristics of DSAP patients were also analyzed. Objective to analyze the clinical phenotypic and genetic characteristics of nine cases of disseminated superficial actinic porokeratosis (DSAP) in Chinese Han nationality. Methods Peripheral blood samples from 1 DSAP family (5 patients), 4 sporadic DSAP patients and 120 unrelated healthy controls were collected from Chinese Han nationality. PCR amplification products were directly sequenced to determine MVKG MVDX PMVKnFDPS4 in the medoxylic acid pathway. The mutation of SLC17A9 and SSH1-SART3 gene was analyzed. At the same time, all reported mutations related to DSAP in Chinese Han population were summarized and analyzed. Results the mutation of MVD gene c. 746 TC was detected in the home system and in 2 sporadic DSAP patients. The c.875AG mutation was detected in the M to VD gene of another sporadic patient. No mutation site was found in all the other genes. Summarizing all relevant reports, A total of 45 pathogenetic mutations related to DSAP were reported in Chinese Han nationality. The mutation rates of MVKC / MVD1 / SSH1 / SLC17A9 / SART3 / FPDS gene were 60.327.27.65.2and 1.7A = 1.7.The mutation rate of MVD gene in c. 746TCCn. 875AG was 56.3x255AG, respectively. In clinical phenotype, 96.9% of the skin lesions were distributed in the exposed site. 65.5 cases were found in families and 62.1% in those aged between 21 and 40 years old. Conclusion this study further confirmed that the mutation of mevalic acid pathway gene was related to the pathogenesis of DSAP in Chinese Han nationality. The most common mutation in MVK gene was MVD, and there were hot spot mutation sites c.746TC and c.875 AGDSAP in MVD gene. The phenotypic analysis of the patients in this study confirmed that there was a significant correlation between rash and sunlight, but there were significant differences among different patients.
【学位授予单位】：安徽医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R758.5
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