【摘要】： 目的:研究念珠狀發(fā)一家系II型毛發(fā)角蛋白基因的突變情況及其與表現(xiàn)型的關(guān)系。為進(jìn)一步探討念珠狀發(fā)的發(fā)病機制奠定分子基礎(chǔ)。 方法:光鏡下觀察毛干的結(jié)構(gòu)變化,運用聚合酶鏈?zhǔn)椒磻?yīng)(PCR)擴增hHb1、hHb3和hHb6的全部外顯子,并進(jìn)行DNA測序驗證。 結(jié)果:光鏡下患者的毛干呈典型的串珠狀結(jié)構(gòu),家系中患者h(yuǎn)Hb6的外顯子7存在錯義突變(E402K)而本家系內(nèi)健康者及100名正常對照者無此突變。 結(jié)論:hHb6的外顯子7突變在該家系成員患病的分子機制中發(fā)揮重要作用,hHb6的E402K突變點可能是中國漢族念珠狀發(fā)發(fā)病的突變高發(fā)點,為產(chǎn)前基因診斷提供了理論依據(jù)。
[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.
【學(xué)位授予單位】：福建醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2010
【分類號】：R758.71

【參考文獻(xiàn)】

相關(guān)期刊論文 前2條

1 Giehl K.A.;Dean D.;Dawber R.P.R.;F. Wojnarowska;王瓊;;花斑發(fā)毛囊中細(xì)胞角蛋白的表達(dá)[J];世界核心醫(yī)學(xué)期刊文摘(皮膚病學(xué)分冊);2005年09期

2 李建國;李振魯;王豫平;廖世秀;張守民;;念珠狀發(fā)家系毛發(fā)角蛋白6致病基因的檢測[J];中華皮膚科雜志;2006年07期

，

本文編號：2356966