播散性浅表性光化性汗孔角化症SLC17A9基因突变分析

发布时间：2018-04-23 18:21

本文选题：DSAP + SLC17A9基因　；参考：《济南大学》2016年硕士论文

【摘要】：研究背景:汗孔角化症(Porokeratosis,PK)是一种角化性皮肤病,为常染色体显性遗传且具有遗传异质性,病程特点表现为慢性进行性。该病是由Mibelli于1893年首次报道,根据形态学、皮损分布、临床特征的不同,目前公认地分为5种临床类型。其中,播散浅表性光化性汗孔角化症(DSAP)是一组以环状排列的异常角化性皮损为特征表现,主要发生在曝光部位,它是PK各种类型里最多见的一种,在30~40岁中多见,由Chenosky等人于1969年在德克萨斯人群首先描述。通过传统的以家系为基础的全基因组连锁分析研究已经发现了6个DSAP的致病区域:12q23.2-24.1,12q24.1-q24.2,15q25.1-26.1,1p31.3-p31.1,16q24.1-24.3和20q13.33。且在以上致病区域中发现7个致病基因SSH1,SART3,MVK,SLC17A9,PMVK,MVD和FDPS。目前,MVK是唯一被明确证实的致病基因。本次实验的研究对象是4个DSAP家系的先证者和7个DSAP散发的患者,采用DNA测序的方法对SLC17A9基因进行突变检查并研究。目的:对山东汉族DSAP患者的SLC17A9基因突变位点进行检测。方法:本研究选择的用于验证的DSAP样本都是经之前MVK基因检测未发现变异的样本,从中选择山东地区的4例DSAP家系的先证者以及7例散发DSAP病例进行基因检测,同时选取100名健康人作正常对照。采集血样,提取外周血DNA,采取并使用PCR扩增的方法,对SLC17A9基因的全部外显子及其侧翼序列进行扩增,同时对PCR扩增产物进行测序分析,从而检测SLC17A9基因的突变位点。结果:对山东汉族人DSAP患者进行SLC17A9基因突变的检测,在该基因上未发现突变位点。结论:本研究中11例DSAP患者的发病与SLC17A9基因的编码区序列无关。
[Abstract]:Background: porokeratosisPKK is a keratosis dermatosis, which is autosomal dominant inheritance and genetic heterogeneity. The course of disease is characterized by chronic progression. The disease was first reported by Mibelli in 1893. It is generally divided into five clinical types according to morphology, distribution of lesions and clinical features. Among them, disseminated superficial actinic porokeratosis (DSAP) is a group of abnormal keratotic lesions characterized by annular arrangement, which mainly occurs at exposure sites. It is the most common type of competition among all types of competition, and is more common in 30 or 40 years of age. First described by Chenosky et al., in the Texas crowd in 1969. Six pathogenetic regions of DSAP:: 12q23.2-24.1a 12q24.1-q24.2n 15q25.1-26.1m 1p31.3-p31.1n 16q24.1-24.3 and 20q13.33have been identified by traditional pedigree based genomic linkage analysis. Seven pathogenicity genes (SSH1, SART3, MVK, SLC17A9, PMVKV, MVD and FDPSs) were found in the above pathogenetic regions. At present, MVK is the only confirmed pathogenetic gene. The subjects of this study were proband of 4 DSAP families and 7 DSAP sporadic patients. The mutation of SLC17A9 gene was detected by DNA sequencing. Objective: to detect the mutation site of SLC17A9 gene in DSAP patients of Shandong Han nationality. Methods: the DSAP samples selected for verification in this study were all unmutated samples from previous MVK gene tests. Four probands of DSAP pedigree and 7 sporadic DSAP cases were selected from Shandong region for gene detection. At the same time, 100 healthy people were selected as normal control. Blood samples were collected and peripheral blood DNA was extracted. All exons and their flanking sequences of SLC17A9 gene were amplified by PCR amplification. The PCR amplification products were sequenced and the mutation sites of SLC17A9 gene were detected. Results: the mutation of SLC17A9 gene was detected in DSAP patients of Shandong Han nationality, and no mutation site was found in the gene. Conclusion: the pathogenesis of 11 DSAP patients in this study is not related to the sequence of coding region of SLC17A9 gene.
【学位授予单位】：济南大学
【学位级别】：硕士
【学位授予年份】：2016
【分类号】：R758.5

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