[转化生长因子α基因TaqI变异与唇裂伴或不伴腭裂的相关性研究]
[Study on the association between transforming growth factor alpha gene TaqI variant and cleft lip with or without cleft palate].
作者信息
Zhu Jiang-hui, Ren Ai-guo, Hao Ling, Pei Li-jun, Zhang Bo-lan, Zhou Min-xia, Sun Xia-mei, Jiang Mei-fang, Chen Hai-lan, Li Zhu
机构信息
Institute of Reproductive and Child Health, National Reference Laboratory on Reproductive Health Research Ministry of Health, Peking University, Beijing 100083, China.
出版信息
Zhonghua Liu Xing Bing Xue Za Zhi. 2006 Mar;27(3):245-8.
OBJECTIVE
To study the association between transforming growth factor alpha gene (TGFalpha) TaqI variant and nonsyndromic cleft lip with or without cleft palate (nsCL/P) in Chinese population.
METHODS
TGFalpha TaqI 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 TGFalpha TaqI 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 TGFalpha TaqI variant and the increased risk of nsCL/P in Chinese population.
目的
研究转化生长因子α基因（TGFα）TaqI 变异与中国人群非综合征性唇裂伴或不伴腭裂（nsCL/P）之间的关联。
方法
采用聚合酶链反应-限制性片段长度多态性方法，对 149 例有 nsCL/P 患病子女的三联体的 DNA 样本进行 TGFα TaqI 变异检测。我们进行传递/不平衡检验和基于家系的关联研究（FBAT），以确定该变异与 nsCL/P 风险之间的关联。
结果
未发现 nsCL/P 组中 TGFα TaqI 位点的 C2 等位基因有显著畸变（P > 0.05）。在基于家系的关联检验中，未发现 C2 等位基因和子代 C2C1 基因型与 nsCL/P 风险增加有显著关联（P > 0.05）。
结论
我们的研究结果未表明子代 TGFα TaqI 变异与中国人群中 nsCL/P 风险增加之间存在关联。
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