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非综合征性唇腭裂与转化生长因子β3基因多态性的相关性研究
发表时间：2009-06-15 浏览量：1984 下载量：655
| 全部作者： | 林健燕，郭泽强，陈永娟，丁凯宏，栾荣生 |
| 作者单位： | 四川大学华西公共卫生学院；右江民族医学院基础学院；广西百色市中医院；贵阳医学院附属医院；广西百色市人民医院 |
| 摘 要： | 目的：探讨转化生长因子β3(trensforming growth factor-β3, TGFβ3)基因641C/A和15572G/-两位点多态性与中国人群非综合征性的关系。方法：应用聚合酶链反应-限制性片段长度多态性（polymerase chain reaction and restriction frogment length polymorphism, PCR-RFLP）核苷酸分型技术，对212例非综合征性唇腭裂患者与221例对照进行TGFβ3基因641C/A和15572G/-两位点的多态性进行检测。并通过DNA序列测定验证基因分型结果。结果：TGFβ3 641C/A和15572G/-两位点的基因型、等位基因的频数分布在非综合征性唇腭裂患者组和对照组之间均无显著性差异（P＞0.05）。单倍型分析也显示各倍型的分布在两组人群中无显著性差异（P＞0.05）。结论：TGFβ3基因641C/A和15572G/-两位点的多态性可能与中国人群非综合征性唇腭裂的发病风险无关。 |
| 关 键 词： | 口腔医学；非综合征性唇腭裂；转化生长因子β3；基因多态性；遗传易感性 |
| Title： | Association of nonsyndromic cleft lip with or without cleft palate with transforming growth factor β3 gene polymorphism |
| Author： | LIN Jianyan, GUO Zeqiang, CHEN Yongjuan, DING Kaihong, LUAN Rongsheng |
| Organization： | West China School of Public Health, Sichuan University；School of Foundation Studies, Youjiang Medical College for Nationalities；Guangxi Baise Traditional Medical Hospital；Affiliated Hospital of Guiyang Medical College；Guangxi Baise People’s Hospital |
| Abstract： | Objective: To explore the relationship between the 641C/A and 15572G/-polymorphisms in transforming growth factor-β3(TGFβ3) gene and the risk of nonsyndromic cleft lip with or without cleft palate (nsCL/P) in Chinese population. Methods: Polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) technique was used to detect the TGFβ3 641C/A and 15572G/-genotypes in 212 patients with nsCL/P and 221 controls. And the specificity of this technique was confirmed by direct sequencing of the PCR products. Results: The genotype and allele frequencies of TGFβ3 641C/A and 15572G/-had no significant difference between nsCL/P and controls (P＞0.05). All haplotypes also had no significant difference between two groups in haplotype analysis (P＞0.05). Conclusion: There is no association between TGFβ3 641C/A and 15572G/-polymorphisms with the development of nsCL/P in the Chinese population. |
| Key words： | stomatology; nonsyndromic cleft lip with or without cleft palate; transforming growth factor β3; gene polymorphism; genetic susceptibility |
| 发表期数： | 2009年6月第11期 |
| 引用格式： | 林健燕，郭泽强，陈永娟，等. 非综合征性唇腭裂与转化生长因子β3基因多态性的相关性研究[J]. 中国科技论文在线精品论文，2009，2（11）：1131-1136. |
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