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| 外胚层发育不全无汗综合征患者基因突变的检测 | |
| 引用本文： | 甘云娜,王忠义,陈苏民,柴玉波,纪宗玲,屈瑞玲,叶小兰. 外胚层发育不全无汗综合征患者基因突变的检测[J]. 牙体牙髓牙周病学杂志, 2002, 12(11): 591-593 |
| 作者姓名： | 甘云娜 王忠义 陈苏民 柴玉波 纪宗玲 屈瑞玲 叶小兰 |
| 作者单位： | 1. 第四军医大学口腔医院 2. 第四军医大学生物化学和分子生物学教研室,陕西,西安,710032 |
| 摘 要： | 目的：检测外胚层发育不全无汗综合征患者的EDA基因的突变。方法：提取外胚层发育不全无汗综合征患者的基因组DNA，采用PCR方法扩增EDA基因的第5、9外显子，直接将PCR产物送测序。结果：确证该患者是X染色体隐性遗传的外胚层发育不全无汗综合征，患者EDA基因的第5外显子存在突变位点：918位碱基C突变为A，致使226位线氨酸变为终止码，结论：该患者是X染色隐性遗传的外胚层发育不全无汗综合征，其EDA基因5外显子存在突变。 |
| 关 键 词： | 外胚层发育不全无汗综合征 基因突变 检测 遗传病 |
| 文章编号： | 1005-2593(2002)11-0591-03 |
| 修稿时间： | 2002-07-05 |
Gene mutation analysis for a patient with anhidrotic ectodermal dysplasia |
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| GAN Yun-na,WANG Zhong-yi,CHEN Su-min,et al. Gene mutation analysis for a patient with anhidrotic ectodermal dysplasia[J]. Chinese Journal of Conservative Dentistry, 2002, 12(11): 591-593 | |
| Authors: | GAN Yun-na WANG Zhong-yi CHEN Su-min et al |
| Abstract: | AIM:To detect the mutation of a patient with anhidrotic ectodermal dysplasia. METHODS: Genomic DNA was extracted from the peripheral blood of the patient and the exon 5 and 9 fragments were obtained by PCR. These fragments were sequenced directly. RESULTS: The patient was diagnosed as X-linked hypohidrotic ectodermal dysplasia. A novel mutation in exon 5 was detected: 918C mutated to A, which changed 226 codon serine to a stop codon. CONCLUSION: The patient was diagnosed as X-linked hypohidrotic ectodermal dysplasia with a novel mutation in exon 5 of EDA gene. |
| Keywords: | anhidrotic/hypohidrotic ectodermal dysplasia EDA gene |
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