Analysis of sequence variants in the 3'UTR of XXXX gene in @entity320 @entity1 .

@entity1 @entity0 @entity986 @entity5 @entity57814 @entity34807 @entity320
BACKGROUND: The 3'UTR region plays a crucial role in regulating gene expression at posttranscriptional levels. Any changes in sequence in this region can cause numerous pathologies and can also lead to @entity5 development. The most common changes reported in in the @entity986 gene are the 148Ala/Thr in exon 2 and @entity57814 and @entity34807 in the 3'UTR region. They are suspected of having a great impact on @entity5 progression. Since the role of these sequence variants in the Polish population in the development of @entity320 has not been confirmed, the importance of 3'UTR polymorphisms in the regulation of gene expression was tested. MATERIAL AND METHODS: First, genetic analysis in a group of 285 @entity320 @entity1 was performed and the obtained results were correlated with the clinical course of @entity320 . Then vectors carrying 3'UTR sequence variants were prepared and the level expression of the reported gene was measured. RESULTS: Within this study no correlation between the presence of 148Ala/Thr polymorphism and @entity5 in the family was observed. There was a correlation between the presence of this polymorphism and @entity0 and @entity320 in the same @entity1 . There was no correlation between @entity57814 polymorphism and @entity5 localisation, age of diagnosis, and type of @entity5 in @entity1 ' family, but a correlation between the percentage of @entity1 dying and the @entity57814 variant was observed. CONCLUSION: The results of functional tests indicated that the presence of polymorphism in the 3'UTR region of the @entity986 gene resulted in changes in the level of reporter gene expression.
