Jara L, Blanco R, Chiffelle I, Palomino H, Curtis D
Departamento de Biología Celular y Genética, Facultad de Medicina, Universidad de Chile, Santiago de Chile.
Rev Med Chil. 1993 Apr;121(4):390-5.
In recent studies we have demonstrated that the model that better explains the genetic etiology of non syndromic cleft lip/palate (CL/P) in the Chilean population is one that postulates the existence of a major dominant autosomic locus with low penetrance, without discarding the possible influence of polygenes. Similar conclusions have been communicated by others authors in different populations. Thus, investigations have been initiated to seek possible associations between candidate genes and restriction length polymorphisms (RFLP's), specifically between Transforming Growth Factor Alpha (TGFA) gene RFLP's and CL/P, in caucasian populations. Results thus far obtained have been inconclusive. Therefore, the aim of this work was to study this association in the Chilean population, that is ethnically different. The gene and phenotype frequencies of the TGFA gene BamH1 polymorphism in CL/P probands (n = 21) and controls (n = 16) were determined. No significant differences were detected in the frequencies of the A1 and A2 alleles of the TGFA gene between probands and controls. These results do not support an association between the cleft palate phenotype and TGFA RFLP.
在最近的研究中,我们已经证明,在智利人群中,能更好地解释非综合征性唇腭裂(CL/P)遗传病因的模型是一种假定存在一个低外显率的主要显性常染色体基因座,且不排除多基因可能影响的模型。其他作者在不同人群中也得出了类似结论。因此,已经开展了调查,以寻找候选基因与限制性片段长度多态性(RFLP)之间可能的关联,特别是在白种人群中,研究转化生长因子α(TGFA)基因RFLP与CL/P之间的关联。目前得到的结果尚无定论。因此,本研究的目的是在种族不同的智利人群中研究这种关联。测定了CL/P先证者(n = 21)和对照组(n = 16)中TGFA基因BamH1多态性的基因频率和表型频率。在先证者和对照组之间,未检测到TGFA基因A1和A2等位基因频率的显著差异。这些结果不支持腭裂表型与TGFA RFLP之间存在关联。
Zhonghua Zheng Xing Wai Ke Za Zhi. 2004-5
Avicenna J Med Biotechnol. 2015