本文選題：DSAP + SLC17A9基因��； 參考：《濟南大學(xué)》2016年碩士論文

【摘要】：研究背景:汗孔角化癥(Porokeratosis,PK)是一種角化性皮膚病,為常染色體顯性遺傳且具有遺傳異質(zhì)性,病程特點表現(xiàn)為慢性進行性。該病是由Mibelli于1893年首次報道,根據(jù)形態(tài)學(xué)、皮損分布、臨床特征的不同,目前公認地分為5種臨床類型。其中,播散淺表性光化性汗孔角化癥(DSAP)是一組以環(huán)狀排列的異常角化性皮損為特征表現(xiàn),主要發(fā)生在曝光部位,它是PK各種類型里最多見的一種,在30~40歲中多見,由Chenosky等人于1969年在德克薩斯人群首先描述。通過傳統(tǒng)的以家系為基礎(chǔ)的全基因組連鎖分析研究已經(jīng)發(fā)現(xiàn)了6個DSAP的致病區(qū)域:12q23.2-24.1,12q24.1-q24.2,15q25.1-26.1,1p31.3-p31.1,16q24.1-24.3和20q13.33。且在以上致病區(qū)域中發(fā)現(xiàn)7個致病基因SSH1,SART3,MVK,SLC17A9,PMVK,MVD和FDPS。目前,MVK是唯一被明確證實的致病基因。本次實驗的研究對象是4個DSAP家系的先證者和7個DSAP散發(fā)的患者,采用DNA測序的方法對SLC17A9基因進行突變檢查并研究。目的:對山東漢族DSAP患者的SLC17A9基因突變位點進行檢測。方法:本研究選擇的用于驗證的DSAP樣本都是經(jīng)之前MVK基因檢測未發(fā)現(xiàn)變異的樣本,從中選擇山東地區(qū)的4例DSAP家系的先證者以及7例散發(fā)DSAP病例進行基因檢測,同時選取100名健康人作正常對照。采集血樣,提取外周血DNA,采取并使用PCR擴增的方法,對SLC17A9基因的全部外顯子及其側(cè)翼序列進行擴增,同時對PCR擴增產(chǎn)物進行測序分析,從而檢測SLC17A9基因的突變位點。結(jié)果:對山東漢族人DSAP患者進行SLC17A9基因突變的檢測,在該基因上未發(fā)現(xiàn)突變位點。結(jié)論:本研究中11例DSAP患者的發(fā)病與SLC17A9基因的編碼區(qū)序列無關(guān)。
[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.
【學(xué)位授予單位】：濟南大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2016
【分類號】：R758.5

【參考文獻】

相關(guān)期刊論文 前1條

1 徐媛媛;于功奇;付希安;于永翔;田洪青;劉紅;張福仁;;播散性淺表性光化性汗孔角化癥MVK基因突變分析[J];中國麻風(fēng)皮膚病雜志;2015年02期

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本文編號：1793080