本文關(guān)鍵詞： 雀斑樣痣 基因 突變 PTPN11　出處：《山西醫(yī)科大學(xué)》2017年碩士論文　論文類型：學(xué)位論文

【摘要】：目的:搜集1例中國漢族泛發(fā)性雀斑樣痣家系進(jìn)行PTPN11基因檢測,探尋泛發(fā)性雀斑樣痣的遺傳學(xué)發(fā)病機(jī)制。方法:收集的1例中國漢族泛發(fā)性雀斑樣痣家系,以家系內(nèi)3例患者作為研究對象,以表型正常的家族成員和100例無親緣關(guān)系的正常人作為對照,提取該家系內(nèi)3例患者及表型正常的家族成員和100例無親緣關(guān)系的正常人的外周血基因組DNA,針對PTPN11基因的15個外顯子設(shè)計并合成15對引物,進(jìn)行PCR擴(kuò)增,并外送生物公司進(jìn)行基因檢測,篩查該家系患者的基因突變位點(diǎn),采用Chromas軟件(版本2.0)對測序結(jié)果進(jìn)行對比分析,確定突變位點(diǎn),并對突變位點(diǎn)表達(dá)蛋白質(zhì)進(jìn)行功能預(yù)測。結(jié)果:該家系內(nèi)3例泛發(fā)性雀斑樣痣患者PTPN11基因的第8號外顯子中檢測到錯義突變(c.907GA),使氨基酸由正常的天冬氨酸變成組氨酸,即p.D303H,表型正常的家族成員及無親緣關(guān)系的100例健康對照均未發(fā)現(xiàn)該突變。結(jié)論:PTPN11基因第8號外顯子的錯義突變(c.907GA),導(dǎo)致基因編碼蛋白質(zhì)及其功能改變,可能是引起該家系患者表型的原因。
[Abstract]:Objective: to investigate the genetic pathogenesis of generalized freckle nevus in a family of Chinese Han nationality by PTPN11 gene detection. Methods: a family of Chinese Han nationality with generalized freckle nevus was collected. Three patients in a pedigree were used as study subjects, and 100 normal family members and 100 unrelated normal persons as controls. The peripheral blood genomic DNAs of 3 patients with normal phenotypes and 100 unrelated normal individuals were extracted. Fifteen pairs of primers were designed and synthesized for 15 exons of PTPN11 gene, and PCR amplification was performed. The gene mutation sites were screened by the outsourced biology company, and the results of sequencing were analyzed by Chromas software (version 2.0) to determine the mutation sites. Results: the missense mutation was detected in exon 8 of PTPN11 gene in 3 patients with generalized freckle nevus in this pedigree, which changed the amino acid from normal aspartic acid to histidine. That is, p. D303H, none of the normal phenotypic family members and 100 unrelated healthy controls found this mutation. Conclusion the missense mutation in exon 8 of the 1: PTPN11 gene may result in the gene coding protein and its functional changes. This may be the reason for the phenotype of the family member.
【學(xué)位授予單位】：山西醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2017
【分類號】：R758.51

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相關(guān)期刊論文 前1條

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本文編號：1523647