[转化生长因子α基因Taq I多态性与非综合征性唇裂伴或不伴腭裂]
[The TGF-alpha gene Taq I polymorphism and non-syndromic cleft lip with or without cleft palate].
作者信息
Zhang Wen-guang, Luo Shao-jun, Tang Shao-ming, Liang Jie
机构信息
Department of Plastic Surgery, Affiliated Hospital of Guangdong Medical College, Zhanjiang 524001, China.
出版信息
Zhonghua Zheng Xing Wai Ke Za Zhi. 2004 May;20(3):190-3.
OBJECTIVE
To study the association of TGF-alpha gene Taq I polymorphism and nonsyndromic cleft lip with or without cleft palate (NSCL/P) in Chinese.
METHODS
107 patients with NSCL/P and 136 healthy controls were examined for TGF-alpha/Taq I genotypes. TGF-alpha/Taq I typing was carried out by digesting the locus specific polymerase chain reaction amplified products with alleles specific Taq I restriction enzyme (PCR-RELP).
RESULTS
The C2 allele frequency of TGF-alpha/Taq I in patients with NSCL/P (16%) was significantly higher than that in healthy controls (8%). The C2 genotype frequency of TGF-alpha/Taq I in NSCL/P patients with positive family history (12.5%) was significantly higher than that in healthy controls.
CONCLUSION
These findings demonstrate the role of TGF-alpha as a gene of major effects in the development of nonsyndromic cleft lip with or without cleft palate clefts in human. These findings suggest that a family history of clefting may correlate with the TGF-alpha Taq I rare variation.
目的
研究转化生长因子-α（TGF-α）基因Taq I多态性与中国人非综合征性唇腭裂（NSCL/P）的相关性。
方法
对107例NSCL/P患者和136例健康对照者进行TGF-α/Taq I基因分型。通过用等位基因特异性Taq I限制性内切酶消化位点特异性聚合酶链反应扩增产物来进行TGF-α/Taq I分型（PCR-RELP）。
结果
NSCL/P患者中TGF-α/Taq I的C2等位基因频率（16%）显著高于健康对照者（8%）。有阳性家族史的NSCL/P患者中TGF-α/Taq I的C2基因型频率（12.5%）显著高于健康对照者。
结论
这些发现证明了TGF-α作为人类非综合征性唇腭裂发生中主要效应基因的作用。这些发现表明腭裂家族史可能与TGF-α Taq I罕见变异相关。
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