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智利人群中的唇腭裂:与转化生长因子α(TGFA)基因的BamH1多态性的关联

[Cleft lip and palate in the Chilean population: association with BamH1 polymorphism of the transforming growth factor alpha (TGFA) gene].

作者信息

Jara L, Blanco R, Chiffelle I, Palomino H, Curtis D

机构信息

Departamento de Biología Celular y Genética, Facultad de Medicina, Universidad de Chile, Santiago de Chile.

出版信息

Rev Med Chil. 1993 Apr;121(4):390-5.


DOI:
PMID:8272608
Abstract

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.

摘要

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。

相似文献

[1]
[Cleft lip and palate in the Chilean population: association with BamH1 polymorphism of the transforming growth factor alpha (TGFA) gene].

Rev Med Chil. 1993-4

[2]
Association between alleles of the transforming growth factor alpha locus and cleft lip and palate in the Chilean population.

Am J Med Genet. 1995-7-17

[3]
Transforming growth factor-alpha (TGFA): genomic structure, boundary sequences, and mutation analysis in nonsyndromic cleft lip/palate and cleft palate only.

Genomics. 1999-11-1

[4]
Maternal MTHFR interacts with the offspring's BCL3 genotypes, but not with TGFA, in increasing risk to nonsyndromic cleft lip with or without cleft palate.

Eur J Hum Genet. 2004-7

[5]
Cleft palate, transforming growth factor alpha gene variants, and maternal exposures: assessing gene-environment interactions in case-parent triads.

Genet Epidemiol. 2003-12

[6]
Contribution of transforming growth factor α polymorphisms to nonsyndromic orofacial clefts: a HuGE review and meta-analysis.

Am J Epidemiol. 2013-11-15

[7]
[The TGF-alpha gene Taq I polymorphism and non-syndromic cleft lip with or without cleft palate].

Zhonghua Zheng Xing Wai Ke Za Zhi. 2004-5

[8]
Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in Brazilian patients: results of a large case-control study.

Cleft Palate Craniofac J. 2004-7

[9]
Variants of developmental genes (TGFA, TGFB3, and MSX1) and their associations with orofacial clefts: a case-parent triad analysis.

Genet Epidemiol. 2003-4

[10]
Analysis of the candidate genes responsible for non-syndromic cleft lip and palate in Japanese people.

Clin Sci (Lond). 2000-8

引用本文的文献

[1]
Association of Transforming Growth Factor Alpha Polymorphisms with Nonsyndromic Cleft Lip and Palate in Iranian Population.

Avicenna J Med Biotechnol. 2015

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