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Journal of Central South University(Medical Sciences) ; (12): 458-466, 2021.
Artigo em Inglês | WPRIM | ID: wpr-880682

RESUMO

OBJECTIVES@#To evaluate the relation between single nucleotide polymorphisms (SNPs) of tropoelastin gene and aortic dissection (AD) via identifying SNPs in the tropoelastin gene, and to detect the level of tropoelastin mRNA, elastin and elastic fibers.@*METHODS@#The specimens of the AD group (@*RESULTS@#Seven SNP loci of the tropoelastin gene were detected in these samples. Among them, 5 SNP loci were polymorphic. The frequency of 3 SNP loci[rs2071307 (G/A), rs34945509 (C/T) and rs17855988 (G/C)] was significantly different between the AD group and the control group (all @*CONCLUSIONS@#The polymorphisms of rs2071307 (G/A), rs34945509 (C/T), and rs17855988(G/C) in the tropoelastin gene may eventually affect the synthesis of elastic fibers and they may play an important role in the occurrence of AD.


Assuntos
Humanos , Dissecção Aórtica/genética , Tecido Elástico , Elastina/genética , Polimorfismo de Nucleotídeo Único , Tropoelastina/genética
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