一例中国汉族泛发性雀斑样痣家系PTPN11致病基因突变筛查

发布时间：2018-02-22 04:35

本文关键词： 雀斑样痣基因突变 PTPN11　出处：《山西医科大学》2017年硕士论文　论文类型：学位论文

【摘要】：目的:搜集1例中国汉族泛发性雀斑样痣家系进行PTPN11基因检测,探寻泛发性雀斑样痣的遗传学发病机制。方法:收集的1例中国汉族泛发性雀斑样痣家系,以家系内3例患者作为研究对象,以表型正常的家族成员和100例无亲缘关系的正常人作为对照,提取该家系内3例患者及表型正常的家族成员和100例无亲缘关系的正常人的外周血基因组DNA,针对PTPN11基因的15个外显子设计并合成15对引物,进行PCR扩增,并外送生物公司进行基因检测,筛查该家系患者的基因突变位点,采用Chromas软件(版本2.0)对测序结果进行对比分析,确定突变位点,并对突变位点表达蛋白质进行功能预测。结果:该家系内3例泛发性雀斑样痣患者PTPN11基因的第8号外显子中检测到错义突变(c.907GA),使氨基酸由正常的天冬氨酸变成组氨酸,即p.D303H,表型正常的家族成员及无亲缘关系的100例健康对照均未发现该突变。结论:PTPN11基因第8号外显子的错义突变(c.907GA),导致基因编码蛋白质及其功能改变,可能是引起该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.
【学位授予单位】：山西医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R758.51

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