九例播散性淺表性光化性汗孔角化癥患者臨床表型及遺傳學(xué)分析
發(fā)布時(shí)間：2018-08-11 18:32
【摘要】：背景 汗孔角化癥(porokeratosis,PK)是一種遺傳性的角化不全性皮膚病,屬于常染色體顯性遺傳,也是一種單基因遺傳性皮膚疾病。根據(jù)其皮損的分布、皮損的形以及臨床過程的不同,將汗孔角化癥公認(rèn)地分為五種臨床類型,分別為:Mibelli汗孔角化癥(plaque type of Mibelli,PM)、線狀汗孔角化癥(liner porokeratosis,LP)、播散性表淺性汗孔角化癥(disseminated superficial form of porokeratosis,DSP)、播散性淺表性光化性汗孔角化癥(disseminated superficial actinic form of porokeratosis,DSAP)、播散性掌跖汗孔角化癥(porokeratosis palmaris plantaris et disseminated,PPPD)。其中,最為常見的臨床類型為播散性淺表性光化性汗孔角化癥(DSAP)。然而,迄今為止引起該病的致病基因仍未完全研究明了。本研究對(duì)1例家系(5個(gè)患者)和4例散發(fā)的中國漢族DSAP患者進(jìn)行基因檢測,同時(shí)將對(duì)DSAP患者的臨床表型和遺傳學(xué)特點(diǎn)進(jìn)行分析。目的 分析九例中國漢族播散性淺表性光化性汗孔角化癥(DSAP)患者的臨床表型和遺傳學(xué)特點(diǎn)。方法 收集中國漢族1個(gè)DSAP家系(5個(gè)患者)和4個(gè)DSAP散發(fā)患者及120名無親緣關(guān)系的健康對(duì)照血樣提取外周血DNA,應(yīng)用PCR擴(kuò)增產(chǎn)物直接測序法對(duì)甲羥戊酸通路中MVK、MVD、PMVK、FDPS四個(gè)基因以及SLC17A9、SSH1、SART3基因進(jìn)行突變分析;同時(shí)總結(jié)分析迄今所有報(bào)道的中國漢族人DSAP相關(guān)的基因突變。結(jié)果 在家系內(nèi)以及2例散發(fā)DSAP患者中均檢測到MVD基因的突變c.746TC,在另1例散發(fā)患者的M迄VD基因內(nèi)檢測到c.875AG突變,所有患者在其他基因內(nèi)均未發(fā)現(xiàn)任何突變位點(diǎn);綜述所有相關(guān)報(bào)道,發(fā)現(xiàn)迄今共報(bào)道了45個(gè)與中國漢族人DSAP相關(guān)的致病突變,MVK、MVD、SSH1、SLC17A9、SART3、FPDS基因的突變比率分別為60.3%、27.6%、5.2%、3.4%、1.7%、1.7%;其中MVD基因內(nèi)c.746TC、c.875AG突變的比率分別是56.3%、25%;臨床表型方面,96.9%的皮損分布于曝光部位,家系病例占65.5%,發(fā)病年齡在21~40歲之間者占62.1%。結(jié)論 本研究進(jìn)一步證實(shí)甲羥戊酸通路基因的突變與中國漢族人DSAP的發(fā)病有關(guān),其中以MVK基因發(fā)生突變最為常見,MVD次之,且MVD基因存在熱點(diǎn)突變位點(diǎn)c.746TC和c.875AG;DSAP的皮損表淺播散、廣泛分布于暴光部位,通過對(duì)本研究中患者的表型分析證實(shí)發(fā)疹與日光存在明顯相關(guān)性,但不同患者之間可存在明顯差異。
[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.
【學(xué)位授予單位】：安徽醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2017
【分類號(hào)】：R758.5
本文編號(hào)：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.
【學(xué)位授予單位】：安徽醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2017
【分類號(hào)】：R758.5
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1 Parimi Leela Rani;付希安;王真真;楊寶琦;施仲香;劉紅;張福仁;;播散性淺表性光化性汗孔角化癥MVK基因突變檢測[J];中國麻風(fēng)皮膚病雜志;2016年03期
相關(guān)碩士學(xué)位論文 前1條
1 戴景欣;播散性淺表性光化性汗孔角化癥基因突變分析[D];濟(jì)南大學(xué);2014年
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