|
|||||
|
|
| KIF21A基因的p.Arg954Trp突变引起中国人先天性眼外肌纤维化 | |
| 引用本文： | 张贤钦,彭剑虹,唐朝晖,徐承启,周新,龚淑贤,刘静宇,王擎,刘木根.KIF21A基因的p.Arg954Trp突变引起中国人先天性眼外肌纤维化[J].遗传学报,2006,33(8):685-691. |
| 作者姓名： | 张贤钦 彭剑虹 唐朝晖 徐承启 周新 龚淑贤 刘静宇 王擎 刘木根 |
| 作者单位： | 1. 华中科技大学人类基因组研究中心,武汉,430074 2. 武汉大学中南医院基因诊断中心,武汉,430071 3. 武汉爱尔眼科医院,武汉,430063 4. 华中科技大学人类基因组研究中心,武汉,430074;美国克利夫兰临床医学研究中心,分子心血管病学系,俄亥俄 44195,美国 |
| 基金项目： | 国家科技攻关项目;国家自然科学基金;湖北省自然科学基金 |
| 摘 要： | 一型先天性眼外肌纤维化（Congenital fibrosis of the extraocular muscles, CFEOM）是一种罕见的常染色体显性遗传的眼肌疾病，临床上主要表现为动眼神经缺陷而引起的斜视。本研究鉴定了具有四代病人的一个呈常染色体显性遗传的CFEOM1家系，连锁分析表明致病基因与染色体12q处的微卫星标记D12S85紧密连锁，最大LOD值为2．1。对D12S85附近的CFEOM1基因K1F21A进行突变检测，在K1F21A基因第21个外显子发现有一C→T的碱基替换，该变化引起K1F21A基因的第954位密码子由精氨酸突变为色氨酸，SSCP结果表明该家系中的所有患者都具有这一突变，而在家系中的所有正常人以及150个正常汉人对照中则不能检测到这一改变。我们的研究表明，K1F21A的p．Arg954Trp突变是引起这一先天性眼外肌纤维化家系病人患病的致病原因。 |
| 关 键 词： | KIF2A1基因 先天性眼外肌纤维化 连锁分析 单链构象多态 突变 |
| 收稿时间： | 2005-09-19 |
| 修稿时间： | 2005-09-192006-02-20 |
Mutation p.Arg954Trp of KIF21A Causes Congenital Fibrosis of the Extraocular Muscles in a Chinese Family |
|
| ZHANG Xian-Qin,PENG Jian-Hong,TANG Zhao-Hui,XU Cheng-Qi,ZHOU Xin,GONG Shu-Xian,LIU Jing-Yu,WANG Qing,LIU Mu-Gen.Mutation p.Arg954Trp of KIF21A Causes Congenital Fibrosis of the Extraocular Muscles in a Chinese Family[J].Journal of Genetics and Genomics,2006,33(8):685-691. | |
| Authors: | ZHANG Xian-Qin PENG Jian-Hong TANG Zhao-Hui XU Cheng-Qi ZHOU Xin GONG Shu-Xian LIU Jing-Yu WANG Qing LIU Mu-Gen |
| Institution: | 1. Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, China; 2. Genetic Diagnosis Center, Zhongnan Hospital, Wuhan University, Wuhan 430074, China; 3. Aier Eye Hospital, Wuhan 430063, China; 4. Department of Molecular Cardiology, the Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA |
| Abstract: | Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. In this study, we identified a Chinese family with CFEOM1 for four generations. Linkage analysis mapped the causative gene of the family to 12q with a Lod score 2.1 for polymorphic marker D12S85, where KIF21A is located.Direct DNA sequence analysis identified a 2860C→T change in exon 21, resulting in a tryptophan substitution for arginine in codon 954 of KIF21A. SSCP (single-stranded conformational polymorphism) analysis showed that mutation p. Arg954Trp of KIF21A co-segregated with the affected members, but was absent in the unaffected individuals in the family and 150 normal controls. Our results indicate that mutation p.Arg954Trp of the KIF21A is the genetic basis of the Chinese family with CFEOM1. |
| Keywords: | KIF21A CFEOM linkage analysis SSCP mutation |
| 本文献已被 CNKI 维普 万方数据 等数据库收录！ | |