Conţinutul numărului revistei |
Articolul precedent |
Articolul urmator |
214 2 |
Ultima descărcare din IBN: 2023-04-21 11:31 |
SM ISO690:2012 BUGAI, Rodica, ŢÎBÎRNĂ, Ion, BARBACAR, Nicolae. Assessment of the frequency of CFTR gene mutations in chronic pancreatitis patients of the Republic of Moldova. In: Archives of the Balkan Medical Union Supliment, 2013, nr. S3(48), pp. 67-68. ISSN 0041-6940. |
EXPORT metadate: Google Scholar Crossref CERIF DataCite Dublin Core |
Archives of the Balkan Medical Union Supliment | ||||||
Numărul S3(48) / 2013 / ISSN 0041-6940 | ||||||
|
||||||
Pag. 67-68 | ||||||
|
||||||
Descarcă PDF | ||||||
Rezumat | ||||||
Introduction: Over the past two decades it has been shown that chronic pancreatitis (CP) is a variable part of cystic fibrosis syndrome caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). The aim of this study was to assess the frequency of CFTR gene mutations in patients with chronic pancreatitis of the Republic of Moldova. Materials and methods: The study included 30 patients aged 27-55 years with CP, among them: 20-with CP with relapses, 5 – with pseudotumoral CP and 5 with the latent form of CP. 30 practically healthy persons formed the control group. The argumentation of the CP diagnosis was based on historical, clinical and paraclinical specific data for argumentation of CP. Venous blood was used as a sample for the determination of SPINK1 gene polymorphism, using the method of polymerase chain reaction (PCR) and suitable primers, in the laboratory of the Institute of Genetics of the ASRM. The informed consent was obtained from all individuals included in the study. The results: indicated the presence of mutant alleles of CFTR in 70% of patients, 23.3% homozygous and 46.4% heterozygous and 60% in healthy individuals, of whom - 3 (10%) homozygous and 15 (50%) heterozygous, and demonstrate the importance of these mutations in genetic susceptibility to chronic pancreatitis in the population of RM in correlation with other risk factors. |
||||||
Cuvinte-cheie frequency, CFTR gene, mutations, chronic pancreatitis |
||||||
|