念珠状发一家系的基因突变研究
发布时间：2018-11-25 18:00
【摘要】： 目的:研究念珠状发一家系II型毛发角蛋白基因的突变情况及其与表现型的关系。为进一步探讨念珠状发的发病机制奠定分子基础。 方法:光镜下观察毛干的结构变化,运用聚合酶链式反应(PCR)扩增hHb1、hHb3和hHb6的全部外显子,并进行DNA测序验证。 结果:光镜下患者的毛干呈典型的串珠状结构,家系中患者hHb6的外显子7存在错义突变(E402K)而本家系内健康者及100名正常对照者无此突变。 结论:hHb6的外显子7突变在该家系成员患病的分子机制中发挥重要作用,hHb6的E402K突变点可能是中国汉族念珠状发发病的突变高发点,为产前基因诊断提供了理论依据。
[Abstract]:Objective: to study the mutation of II type hair keratin gene and its relationship with phenotype in a family with moniliform hair. In order to further explore the pathogenesis of rosary hair lay a molecular foundation. Methods: the structural changes of hair stem were observed under light microscope. All exons of hHb1,hHb3 and hHb6 were amplified by polymerase chain reaction (PCR) and confirmed by DNA sequencing. Results: the hair stem of the patients showed a typical beaded structure under light microscope. There was a missense mutation (E402K) in exon 7 of hHb6 in the pedigree, but not in the healthy family and 100 normal controls. Conclusion: the exon 7 mutation of hHb6 plays an important role in the molecular mechanism of the disease in this family member. The E402K mutation of hHb6 may be the high mutation point of rosary occurrence in Chinese Han nationality, which provides a theoretical basis for prenatal gene diagnosis.
【学位授予单位】：福建医科大学
【学位级别】：硕士
【学位授予年份】：2010
【分类号】：R758.71
本文编号：2356966
[Abstract]:Objective: to study the mutation of II type hair keratin gene and its relationship with phenotype in a family with moniliform hair. In order to further explore the pathogenesis of rosary hair lay a molecular foundation. Methods: the structural changes of hair stem were observed under light microscope. All exons of hHb1,hHb3 and hHb6 were amplified by polymerase chain reaction (PCR) and confirmed by DNA sequencing. Results: the hair stem of the patients showed a typical beaded structure under light microscope. There was a missense mutation (E402K) in exon 7 of hHb6 in the pedigree, but not in the healthy family and 100 normal controls. Conclusion: the exon 7 mutation of hHb6 plays an important role in the molecular mechanism of the disease in this family member. The E402K mutation of hHb6 may be the high mutation point of rosary occurrence in Chinese Han nationality, which provides a theoretical basis for prenatal gene diagnosis.
【学位授予单位】：福建医科大学
【学位级别】：硕士
【学位授予年份】：2010
【分类号】：R758.71
【参考文献】
相关期刊论文 前2条
1 Giehl K.A.;Dean D.;Dawber R.P.R.;F. Wojnarowska;王琼;;花斑发毛囊中细胞角蛋白的表达[J];世界核心医学期刊文摘(皮肤病学分册);2005年09期
2 李建国;李振鲁;王豫平;廖世秀;张守民;;念珠状发家系毛发角蛋白6致病基因的检测[J];中华皮肤科杂志;2006年07期
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