Analysis of JAG1 gene variant in Chinese patients with Alagille syndrome

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• 作者：Honglian Wang^a ; ^b ; ¹ ; Xiaohong Wang^a ; ^c ; ¹ ; Qiaoli Li^a ; ^b ; Shiting Chen^a ; ^b ; Liyan Liu^a ; ^c ; Zhiyun Wei^a ; ^b ; Lei Wang^a ; ^b ; Yun Liu^a ; ^b ; Xinzhi Zhao^a ; ^b ; Lin He^a ; ^b ; ^d ; Jianshe Wang^a ; ^c ; ^{jshwang@shmu.edu.cn} ; Qinghe Xing^a ; ^b ; ^{xingqinghe@hotmail.com}
• 关键词：JAG1 ; Jagged1 ; AGS ; Alagille syndrome ; DSL ; Delta ; Serrate ; and Lag-2 ligands for C. elegans Notch ; EGF ; epidermal growth factor repeat domain ; PTC ; premature termination codons ; NMD ; nonsense-mediated mRNA decay
• 刊名：Gene
• 出版年：2012
• 期刊代码：73_03781119
• 类别：bio
• 出版时间：10 May, 2012
• 卷：499
• 期：1
• 页码：191-193
• 文件大小：153 K

摘要

Alagille syndrome (AGS) is an autosomal dominant disorder characterized by bile duct paucity. It can be caused by variations in the JAG1 gene encoding a protein of Notch ligand and by variations in the NOTCH2 gene encoding a Notch receptor. In this study we identified 15 different JAG1 gene variations in 17 Chinese patients, nine of which were novel alterations including c.766G > T, c.819delC, c.826delT, c.3099_3100delCA, c.1323_1326delCTGG, c.1771_1775delGTGCGinsT, c.1868delG, c. 2791_2792insA and c.866delG. These alterations were located in the extracellular domain of JAG1, in particular in the DSL and EGF-like repeat domain. All the specific variations in five inheritance cases investigated were de novo. Furthermore, no sequence variation of NOTCH2 was detected in JAG1 alteration negative patients.