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SM ISO690:2012 SACARĂ, Victoria, SPĂTARU, Aurelia, BURGOCI, Vasile, GROPPA, Stanislav, DUCA, Maria, MOŞIN, Veaceslav. Analiza efectului modificator a genei nitric oxide syntase în procesele miopatice. In: Buletin de Perinatologie, 2010, nr. 3(47), pp. 61-66. ISSN 1810-5289. |
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Buletin de Perinatologie | ||||||
Numărul 3(47) / 2010 / ISSN 1810-5289 | ||||||
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Pag. 61-66 | ||||||
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Background Recent molecular studies have shown clinical diversity with the same genetic defect of severe monogenic pathology (MDD/B) within a single/multiple families. Probably this may be result of the influence of other genes that are important potential genetic modifiers of phenotypic manifestations. The aim was to examine the effect of polymorphism of the endothelial nitric oxide synthase (eNOS) gene, located in the 4a/4b VNTR (variable number of tandem repeats) minisatelit marker of eNOS in patients with DMD/B.. Study of genetic factors can predict the clinical course of myopathy process and create complex pharmaco-diagnostic chips.
Material and methods. The study was conducted on a sample of DNA patients with MDD/B in laboratory of Human Molecular Genetics. Were analyzed DNA of 121 patients with MDD/B and 50 of the control group
Results: As a result of research of eNOS gene allele’s polymorphism, was revealed the frequency of allele 4a – 0.29 and allele 4b – 0.71, with quotient of heterozygosity is 0.45, respectively this polymorphism can be considered to be highly informative. The career of the intron- 4a/4b and 4b/4b polymorphism of the eNOS gene was associated with myopathy and increased risk of myocardial infarction Correlation analysis of genotype/phenotype has shown that various allelic variants of known gene can influence the severity of myopathy.
Conclusions: We found that this polymorphism is informative in a group of patients with MDD/B and can be combined with other polymorphisms, used in the development of pharmaco-diagnostic chip |
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Cuvinte-cheie DMD/B- Duchenne/ Beсker muscular dystrophy, eNOS- endothelial NO-synthase, SNP- single nucleotid polymorphysm, VNTR- variabil nucleotid terminal repeats |
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