本文選題：表皮松解性掌跖角化病 + 連鎖分析��； 參考：《新疆醫(yī)科大學(xué)》2010年碩士論文

【摘要】： 目的:對(duì)一表皮松解性掌跖角化病(Epidermolytic Palmoplantar Keratoderma,EPPK)家系致病基因進(jìn)行定位研究,對(duì)角蛋白9、角蛋白14、角蛋白16、角蛋白17進(jìn)行測(cè)序以檢測(cè)其是否為該病的致病基因。方法:提取新疆地區(qū)一維吾爾族EPPK家系外周血基因組DNA,針對(duì)已知候選基因KRT9和KRT1,分別對(duì)其所在染色體位置17q12-q21和12q13選取遺傳標(biāo)記進(jìn)行連鎖分析研究,確定連鎖區(qū)域后,對(duì)區(qū)域內(nèi)角蛋白9(KRT9)、角蛋白14(KRT14)、角蛋白16(KRT16)、角蛋白17(KRT17)基因所有外顯子進(jìn)行測(cè)序分析。結(jié)果:分別得到48個(gè)家庭成員遺傳標(biāo)記的基因型和單倍型,經(jīng)Linkage軟件計(jì)算分析,發(fā)現(xiàn)標(biāo)記D17S1787在θ=0時(shí)LOD值達(dá)到8.65,并最終將該病候選區(qū)域定位于遺傳標(biāo)記17/TG/36620115-D17S846之間約1Mb范圍內(nèi)。排除該病與位于染色體12q13上的遺傳標(biāo)記D12S96(θ=0時(shí)LOD=-∞)連鎖。未發(fā)現(xiàn)KRT9、KRT14、KRT16、KRT17基因存在致病性突變。結(jié)論:提示該表皮松解性掌跖角化病家系的致病基因位于染色體17q 21.2上(chr17:36620083-37146934)約1Mb區(qū)域內(nèi),且突變位點(diǎn)不位于KRT9、KRT14、KRT16、KRT17基因編碼區(qū)。
[Abstract]:Objective: to study the pathogenicity genes of Epidermolytic Palmoplantar Keratoderma-EPPKK in a family of epidermolytic palmoplantar keratosis, and to sequence keratin 9, keratin 14, keratin 16 and keratin 17. Methods: genomic DNA of peripheral blood was extracted from a Uygur EPPK pedigree from Xinjiang area. For known candidate genes KRT9 and KRT1, the genetic markers of 17q12-q21 and 12q13 were selected for linkage analysis, and the linkage regions were determined. All exons of keratin 9 (KRT9), keratin 14 (KRT14), keratin 16 (KRT16) and keratin 17 (KRT17) were sequenced. Results: the genotypes and haplotypes of 48 family members were obtained respectively. The LOD value of the marker D17S1787 was 8.65 at 胃 = 0, and the candidate region of the disease was located within the range of 1Mb between the genetic markers 17/TG/36620115-D17S846. The exclusion of the disease was linked to the genetic marker D12S96 (胃 = 0) located on the chromosome 12q13. No pathogenicity mutation was found in KRT9, KRT14, KRT16, KRT17 gene. Conclusion: the pathogenetic gene of this epidermolytic palmoplantar keratosis family is located in the 1Mb region of chromosome 17q21.2), and the mutation site is not located in the coding region of KRT9 / KRT14 / KRT16 / KRT17 gene.
【學(xué)位授予單位】：新疆醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2010
【分類號(hào)】：R758.5

【參考文獻(xiàn)】

相關(guān)期刊論文 前1條

1 殷鑫湞;張寶榮;丁美萍;張灝;夏昆;胡正茂;;兩個(gè)彌漫性掌跖角化病家系的病理特征與基因突變分析[J];遺傳;2007年03期

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本文編號(hào)：1902929