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非综合征性唇腭裂患者MSX1基因外显子和内含子的突变分析

Mutation analysis of the MSX1 gene exons and intron in patients with nonsyndromic cleft lip and palate.

作者信息

Lace Baiba, Vasiljeva Inta, Dundure Indra, Barkane Biruta, Akota Ilze, Krumina Astrida

机构信息

Department of Medical Biology and Genetics, Riga Stradins University, Dzirciema 16, Riga, Latvia, LV 1007.

出版信息

Stomatologija. 2006;8(1):21-4.


DOI:
PMID:16687911
Abstract

UNLABELLED: Cleft lip with or without cleft palate and cleft palate (CL/CLP/CP) is one of the most common malformations among newborns. The estimated prevalence in Latvia is 1/700. Nonsyndromic CL/CLP/CP is a complex trait determined by multiple, interacting genetic and environmental factors. MSX1 gene is one of the most important candidate-genes, which had been analyzed in relation with nonsyndromic CL/CLP/CP. The objective of our study was to examine the etiologic role of MSX1 gene mutations in the development of nonsyndromic CL/CLP/CP in Latvian population. MATERIALS AND METHODS: DNA was extracted from venous blood of 53 patients with cleft lip with or without palate. Polymerase chain reaction (PCR) was performed of selected segments of MSX1 gene. These were sequenced and analysed by comparison with reference sequence, accession Nr. AF426432 (NCBI). RESULTS: 16 DNA sequence variations were identified in 53 patient samples; 6 of them have not been previously described. Identified sequence variations localized in coding regions do not cause amino acid substitutions, therefore they are not considered as mutations with an etiological role in CL/CLP/CP development. Baltic-Taiwan joint research project "Identification of genes involved in craniofacial morphogenesis and susceptibility to orofacial clefting in a human genome scan 2004-2006".

摘要

未标注:唇裂伴或不伴腭裂以及腭裂(CL/CLP/CP)是新生儿中最常见的畸形之一。拉脱维亚的估计患病率为1/700。非综合征性CL/CLP/CP是一种由多种相互作用的遗传和环境因素决定的复杂性状。MSX1基因是最重要的候选基因之一,已针对非综合征性CL/CLP/CP进行了分析。我们研究的目的是探讨MSX1基因突变在拉脱维亚人群非综合征性CL/CLP/CP发生发展中的病因学作用。 材料与方法:从53例唇裂伴或不伴腭裂患者的静脉血中提取DNA。对MSX1基因的选定片段进行聚合酶链反应(PCR)。将这些片段进行测序,并与参考序列(登录号Nr. AF426432,NCBI)进行比较分析。 结果:在53份患者样本中鉴定出16个DNA序列变异;其中6个此前未被描述。在编码区鉴定出的序列变异不会导致氨基酸替换,因此它们不被视为在CL/CLP/CP发生发展中具有病因学作用的突变。波罗的海 - 台湾联合研究项目“2004 - 2006年人类基因组扫描中涉及颅面形态发生和口面部裂隙易感性的基因鉴定”。

相似文献

[1]
Mutation analysis of the MSX1 gene exons and intron in patients with nonsyndromic cleft lip and palate.

Stomatologija. 2006

[2]
Association of BMP4 polymorphisms with non-syndromic cleft lip with or without cleft palate and isolated cleft palate in Latvian and Lithuanian populations.

Stomatologija. 2014

[3]
MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate.

Eur J Oral Sci. 2010-6

[4]
MSX1 and orofacial clefting with and without tooth agenesis.

J Dent Res. 2006-6

[5]
CRISPLD2 variants including a C471T silent mutation may contribute to nonsyndromic cleft lip with or without cleft palate.

Cleft Palate Craniofac J. 2011-7

[6]
Association of MSX1 799 G>T variant with nonsyndromic cleft lip/palate in South Indian adolescent patients.

Int J Paediatr Dent. 2011-10-4

[7]
Association of MSX1 and TGFB3 with nonsyndromic clefting in humans.

Am J Hum Genet. 1998-8

[8]
Association of MSX1 with nonsyndromic cleft lip and palate in a Colombian population.

Cleft Palate Craniofac J. 2007-11

[9]
Screening of Transforming Growth Factor Beta 3 and Jagged2 Genes in the Malay Population With Nonsyndromic Cleft Lip With or Without Cleft Palate.

Cleft Palate Craniofac J. 2015-7

[10]
MSX1 gene polymorphisms in Mexican patients with non-syndromic cleft lip/palate.

Int J Pediatr Otorhinolaryngol. 2016-11

引用本文的文献

[1]
Alterations in DNA Methylation in Orofacial Clefts.

Int J Mol Sci. 2022-10-22

[2]
Monogenic Versus Multifactorial Inheritance in the Development of Isolated Cleft Palate: A Whole Genome Sequencing Study.

Front Genet. 2022-2-24

[3]
Genomic expression in non syndromic cleft lip and palate patients: A review.

J Oral Biol Craniofac Res. 2015

[4]
Genetic significance of muscle segment homeo box1 gene in South Indian population for cleft lip and palate.

Indian J Hum Genet. 2012-9

[5]
Risk variants in BMP4 promoters for nonsyndromic cleft lip/palate in a Chilean population.

BMC Med Genet. 2011-12-19

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