کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8346016 | 1541624 | 2013 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Polymorphisms in the endothelial nitric oxide synthase gene in thalidomide embryopathy
ترجمه فارسی عنوان
پلیمورفیسم ژن سنتاز نیتریک اکسید اندوتلیال در جنین های تالیدومید
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موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
چکیده انگلیسی
Thalidomide is one of the most potent teratogens known to humans. It is currently used for many clinical situations such as treatment of leprosy reactions and multiple myeloma. However, the teratogenic mechanisms by which it produces morphological defects still remain unclear. One of the hypotheses is the blockage of angiogenesis by reduction of nitric oxide (NO). In this study, we evaluated two functional polymorphisms of the endothelial nitric oxide synthase (eNOS) gene which is a constitutively expressed enzyme responsible for production of NO. The promoter â786T > C exon 7 (896G > T) polymorphisms were genotyped using real-time PCR for 28 individuals with thalidomide embryopathy (TE), 27 first-degree relatives of these individuals, and 68 individuals from the general population. Their allele, genotypic, and haplotypic frequencies were compared. A significant difference was observed in the â786T > C polymorphism genotypes (p = 0.03) between the groups affected by TE and those unaffected (non-relatives). The TT genotype of the 896G > T polymorphism was observed in 10.7% of those affected and 2.9% of those unaffected, but the difference was not statistically significant (p = 0.09). The haplotypic analysis indicated that the wild haplotype â786T/896G was distributed differently in the affected and unaffected groups (p = 0.004). These results indicate that the individuals with TE have a higher frequency of alleles associated with lower expression of eNOS, indicating that this may be a genotype susceptible to TE.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Nitric Oxide - Volume 35, 30 November 2013, Pages 89-92
Journal: Nitric Oxide - Volume 35, 30 November 2013, Pages 89-92
نویسندگان
Fernanda Sales Luiz Vianna, Lucas Rosa Fraga, Luciana Tovo-Rodrigues, Alice Tagliani-Ribeiro, Flavia Biondi, Claudia Marques Maximino, Maria Teresa Vieira Sanseverino, Mara Helena Hutz, LavÃnia Schuler-Faccini,