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| 广东人群MSX1编码区(G267C和P278S)突变与非综合征性唇腭裂相关性研究 | |
| 引用本文： | 许铭炎,邓小玲,陈锡和,刘庭英,陈庆珊,傅玉才,唐世杰. 广东人群MSX1编码区(G267C和P278S)突变与非综合征性唇腭裂相关性研究[J]. 热带医学杂志, 2011, 11(10): 1122-1124 |
| 作者姓名： | 许铭炎 邓小玲 陈锡和 刘庭英 陈庆珊 傅玉才 唐世杰 |
| 作者单位： | 1. 汕头大学医学院第二附属医院唇腭裂治疗中心,广东汕头515041;汕头大学医学院第二附属医院口腔科,广东汕头515041 2. 汕头大学医学院细胞生物与遗传学教研室,广东汕头,515041 3. 汕头大学医学院第二附属医院口腔科,广东汕头,515041 4. 汕头大学医学院第二附属医院唇腭裂治疗中心,广东汕头,515041 5. 汕头大学医学院细胞衰老实验室,广东汕头,515041 |
| 基金项目： | “重生行动-全国贫困家庭唇腭裂儿童手术康复计划”项目(LC0405) |
| 摘 要： | 目的 探讨MSX1基因编码区突变G267C和P278S与广东人群非综合征性唇腭裂(NSCL/P)发病的相关性.方法 收集广东籍NSCL/P患儿100名及健康对照者91名的外周血,提取基因组DNA,应用基质辅助激光解吸电离-飞行时间质谱技术(MALDI-TOF-MS)对MSX1基因编码区G267C和P278S突变进行研究... |
| 关 键 词： | 非综合征型唇腭裂 MSX1基因 突变 |
Association of mutations (G267C and P278S) in the coding regions of MSX1 and nonsyndromic cleft lip with or without cleft palate in Guangdong |
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| XU Ming-yan,DENG Xiao-ling,CHEN Xi-he,LIU Ting-ying,CHEN Qing-shan,FU Yu-cai,TANG Shi-jie. Association of mutations (G267C and P278S) in the coding regions of MSX1 and nonsyndromic cleft lip with or without cleft palate in Guangdong[J]. Journal Of Tropical Medicine, 2011, 11(10): 1122-1124 | |
| Authors: | XU Ming-yan DENG Xiao-ling CHEN Xi-he LIU Ting-ying CHEN Qing-shan FU Yu-cai TANG Shi-jie |
| Affiliation: | XU Ming-yan1,2,DENG Xiao-ling3,CHEN Xi-he2,LIU Ting-ying1,CHEN Qing-shan1,FU Yu-cai4,TANG Shi-jie1 (1. Cleft Lip and Palate Treatment Center,the Second Affiliated Hospital of Shantou University Medical College,Guangdong,Shantou 515041,2. Department of Stomatology,3.Department of Cell Biology and Genetics,Shantou University Medical College,4.Laboratory of Cell Senescence,Shantou U... |
| Abstract: | Objective Mutations of G267C and P278S in muscle segment homeobox gene 1(MSX1) has been shown to associate with the pathogenic development of nonsyndromic cleft lip with or without cleft palate(NSCL/P)in Thai population. The aim of the current study was to determine whether the mutation of G267C and P278S in MSX1 coding region is associated with NSCL/P in the Chinese Guangdong population. Methods Blood samples from 100 NSCL/P patients and 91 unrelated healthy individuals of the Chinese Guangdong population ... |
| Keywords: | nonsyndromic cleft lip with or without cleft palate MSX1 mutation |
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