| 朱江辉,任爱国,郝玲,裴丽君,张伯兰,周敏霞,孙霞美,姜梅芳,陈海兰,李竹.转化生长因子α基因多态性与唇腭裂关联的研究[J].中华流行病学杂志,2006,27(3):245-248 |
| 转化生长因子α基因多态性与唇腭裂关联的研究 |
| Study on the association between transforming growth factor α gene Taqiv variant and cleft lip with orwithout cleft palate |
| 收稿日期:2005-05-30 出版日期:2014-09-12 |
| DOI： |
| 中文关键词: 唇腭裂 转化生长因子α 病例父母亲对照研究 |
| 英文关键词: Cleft lips with or without cleft palate Transforming grow th factorα Case- parent |
| 基金项目:国家重点基础研究专项基金资助项目(G1999055905) |
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| 中文摘要: |
| 目的 探讨中国部分地区人群非综合征型唇裂伴或不伴腭裂(nsCL/P)与转化生长因子α基因(TGFα)TaqⅠ位点多态性之间的关系。方法 采用聚合酶链反应-限制片段长度多态性分析方法,对149个nsCL/P核心家庭成员DNA标本进行TGFαTaqⅠ突变位点的基因型检测。利用传递失衡检验和以家庭为基础的关联研究(FBAT)方法,分析TGFαTaqⅠ突变与nsCL/P发生之间的关系。结果 未发现TGFαTaqⅠ突变的致病C2等位基因在nsCL/P核心家庭成员中存在传递不平衡(P>0.05);采用FBAT分析,未发现C2等位基因及C2C1基因型与nsCL/P发病危险之间关联有统计学意义(P>0.05)。结论 TGFαTaqⅠ突变可能不是中国部分地区人群nsCL/P发生的易感基因。 |
| 英文摘要: |
| Objective To study the association between transforming growth factor A gene( TGFα)
Taqiv variant and nonsyndromic cleft lip with or without cleft palate ( nsCL/ P) in Chinese population.
Methods TGFα Taqiv variant was detected using polymerase chain reaction- restriction fragment length
polymorphism for DNA samples of the 149 triads with nsCL/ P affected child. We performed the
Transmission/ disequilibrium test and the family- based association study( FBAT ) to identify the associations
between this variant and risk of nsCL/ P. Results Significant distortion of C2 allele at TGFATaqiv locus
in nsCL/ P groups ( P > 0.05) was not found. In the family- based association test, C2 allele and offspring
C2C1 genotype was not found to be significantly associated with an increase risk of nsCL/ P ( P>0.05).
Conclusion Our findings did not suggest an association between offspring TGFα Taqiv variant and the
increased risk of nsCL/ P in Chinese population. |
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