| 先天性小耳畸形家系收集和遗传学研究 |
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| 引用本文： | 潘博,林琳,蒋海越,蔡震,赵延勇,庄洪兴. 先天性小耳畸形家系收集和遗传学研究[J]. 中国美容医学, 2007, 16(8): 1023-1026 |
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| 作者姓名： | 潘博 林琳 蒋海越 蔡震 赵延勇 庄洪兴 |
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| 作者单位： | 中国医学科学院整形外科医院外耳整形再造中心,北京,100041 |
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| 摘 要： | 目的：收集和利用先天性小耳畸形家系资源进行相关的遗传学研究。方法：通过对住院患者及其家属家族史的询问调查,收集先天性小耳畸形家系;利用收集的家系资源进行先证者核型分析和vrk1基因突变检测。结果：于2005年9月～2007年3月,收集先天性小耳畸形家系7个;对7个家系先证者的核型分析和vrk1基因突变检测均未发现异常。结论：先天性小耳畸形家系核型正常,初步排除了vrk1基因在先天性小耳畸形发病中的作用。
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| 关 键 词： | 先天性小耳畸形 家系 遗传学研究 |
| 文章编号： | 1008-6455（2007）08-1023-03 |
| 修稿时间： | 2007-03-152007-06-11 |
Collection and hereditary research of pedigrees of microtia |
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| PAN Bo,LIN Lin,JIANG Hai-yue,CAI Zhen,ZHAO Yan-yong,ZHUANG Hong-xing. Collection and hereditary research of pedigrees of microtia[J]. Chinese Journal of Aesthetic Medicine, 2007, 16(8): 1023-1026 |
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| Authors: | PAN Bo LIN Lin JIANG Hai-yue CAI Zhen ZHAO Yan-yong ZHUANG Hong-xing |
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| Affiliation: | Plastic and Reconstructive Ceter of External Ear, Plastic Surgical Hospital, Academy of Medical Science,Beijing 100041 China |
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| Abstract: | Objective To collect, protect and study on pedigrees of microtia. Methods Pedigrees of microtia were collected through inquiring family history. Then cell genetics analysis and molecular genetics research were carried on. Results 7 pedigrees of microtia were collected from September 2005 to March 2007. There were no abnormal cell genetics analysis and molecular genetics research of the probands. Conclusion The probands of microtia pedigrees were showed normal karyotype. Exclusion of vrk1 gene in the mutation of microtia pedigrees. |
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| Keywords: | microtia pedigree genetic research |
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