本文選題：遺傳性對稱性色素異常癥　切入點：ADAR1　出處：《福建醫(yī)科大學(xué)》2011年碩士論文　論文類型：學(xué)位論文

【摘要】：目的:(1)報道一個中國遺傳性對稱性色素異常癥(DSH)家系,研究該家系A(chǔ)DAR1基因突變情況;(2)回顧自2003年國內(nèi)報道的突變病例來闡述DSH臨床及遺傳特征。 方法:(1)應(yīng)用PCR-DNA直接測序技術(shù)對一個DSH四代家系進行ADAR1基因突變檢測(2)檢索2003年以來在CNKI和PubMed上報道的國內(nèi)所有DSH突變的文獻(xiàn),對其臨床及遺傳特點進行分析總結(jié)。 結(jié)果:(1)該家系四代受累,共有患者14人;(2)發(fā)現(xiàn)該家系c.2857AT(P.K953X)無義突變,家系中健康對照及無親緣關(guān)系的正常人未發(fā)現(xiàn)序列突變;(2)我們一共檢索到40個ADAR1基因突變DSH家系。 結(jié)論:(1)上述的ADAR1基因突變?yōu)樾碌臒o義突變; (2)在我國報道的DSH突變病例中,未發(fā)現(xiàn)基因型與表型之間的相關(guān)性。
[Abstract]:Objective to study the mutation of ADAR1 gene in a Chinese family with dystrophy of hereditary symmetry dystrophy (DDS). To review the clinical and genetic characteristics of DSH reported in China since 2003. Methods PCR-DNA direct sequencing technique was used to detect ADAR1 gene mutation in a family of four generations of DSH. All the literatures on DSH mutation reported on CNKI and PubMed since 2003 were searched, and their clinical and genetic characteristics were analyzed and summarized. Results (1) in this family, 14 patients were involved and 14 patients were involved. The sense mutation was found in this family c. 2857 ATP P.K953X), and no sequence mutation was found in healthy controls and unrelated normal persons. A total of 40 DSH families with ADAR1 gene mutation were found. Conclusion (1) the ADAR1 gene mutation is a new nonsense mutation. There was no correlation between genotype and phenotype in DSH mutation cases reported in China.
【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】：2011
【分類號】：R758.5

【參考文獻(xiàn)】

相關(guān)期刊論文 前4條

1 任軍,潘霞,張樹孝;遺傳性對稱性色素異常癥并發(fā)彌漫性掌跖角化癥1例[J];中國麻風(fēng)皮膚病雜志;2004年05期

2 劉紅;張福仁;;遺傳性對稱性色素異常癥[J];中國麻風(fēng)皮膚病雜志;2007年01期

3 何平平,張學(xué)軍,林國書,崔勇,肖尚喜,李誠讓,王再興,高敏,宋映雪,楊森;遺傳性對稱性色素異常癥:臨床和遺傳特點分析[J];安徽醫(yī)科大學(xué)學(xué)報;2001年06期

4 佃艷;孟巖;王錚;彭園園;李曉僑;周青;蘇亮;黃尚志;;遺傳性對稱性色素異常癥一家系中ADAR基因的新突變[J];醫(yī)學(xué)研究雜志;2009年01期

，

本文編號：1598681