| 两例结节性硬化症的基因突变分析 |
| |
| 引用本文： | Yuan CD,Chang XL,Wu YQ,Liu Q,Gao M,Xiao FL,Zhou FS,Yang S,Liu JJ,Zhang XJ. 两例结节性硬化症的基因突变分析[J]. 中国医学科学院学报, 2007, 29(2): 205-208 |
| |
| 作者姓名： | Yuan CD Chang XL Wu YQ Liu Q Gao M Xiao FL Zhou FS Yang S Liu JJ Zhang XJ |
| |
| 作者单位： | 安徽医科大学皮肤病研究所,安徽医科大学第一附属医院皮肤科,教育部"重要遗传病基因资源利用"重点实验室(省部共建),合肥,230032 |
| |
| 基金项目： | 国家高技术研究发展计划(863计划) |
| |
| 摘 要： | 目的检测两例中国汉族结节性硬化症散发病例的基因突变位点。方法采用聚合酶链反应扩增结节性硬化症患者、患者家庭中的正常人及100例健康对照的TSC1和TSC2基因的全部外显子,并进行DNA序列分析。结果患者ⅠTSC2基因第268位碱基由胞嘧啶（C）变成胸腺嘧啶（T）,导致第90位氨基酸谷氨酰胺处提前出现终止密码子;患者ⅡTSC2基因第5227位碱基由胞嘧啶（C）变成胸腺嘧啶（T）,导致第1743位精氨酸被色氨酸替代;而患者家庭中的正常人和100例健康对照均无此改变。结论无义突变c.268C〉T和错义突变c.5227C〉T可能是导致这两例患者临床表型的主要原因。
|
| 关 键 词： | 结节性硬化症 TSC基因 突变 |
| 文章编号： | 1000-503X（2007）02-0205-04 |
| 修稿时间： | 2006-12-20 |
Analysis of gene mutations in two patients with tuberous sclerosis complex |
| |
| Yuan Cheng-Da,Chang Xiao-Li,Wu Yao-Qun,Liu Qin,Gao Min,Xiao Feng-Li,Zhou Fu-Sheng,Yang Sen,Liu Jian-Jun,Zhang Xue-Jun. Analysis of gene mutations in two patients with tuberous sclerosis complex[J]. Acta Academiae Medicinae Sinicae, 2007, 29(2): 205-208 |
| |
| Authors: | Yuan Cheng-Da Chang Xiao-Li Wu Yao-Qun Liu Qin Gao Min Xiao Feng-Li Zhou Fu-Sheng Yang Sen Liu Jian-Jun Zhang Xue-Jun |
| |
| Affiliation: | Institute of Dermatology and Department of Dermatology, First Affiliated Hospital of Anhui Medical University, Key Laboratory of Gene Resource Utilization for Genetic Diseases, Ministry of Education and Anhui Province, Hefei 230032, China. |
| |
| Abstract: | Objective To analyze the mutation of TSC gene in two sporadic patients with tuberous sclerosis complex(TSC).Methods All the coding exons of TSC1 and TSC2 genes of these two patients,unaffected member in the two families,and 100 unrelated population-matched controls were amplified by polyme-rase chain reaction.The products were analyzed by direct sequencing.Result Two TSC2 gene mutations(c.268C>T,c.5 227C>T)were identified in two patients,but not in their family members and in 100 unrelated population-matched controls.Conclusion These two mutations are the cause of the clinical phenotypes of these two sporadic patients with TSC. |
| |
| Keywords: | tuberous sclerosis complex TSC gene mutation |
| 本文献已被 CNKI 维普 万方数据 PubMed 等数据库收录！ |
|
