公开(公告)号：US20180155793A1

公开(公告)日：2018-06-07

申请号：US15569964

申请日：2016-05-02

申请人： IPATIMUP (INSTITUTO DE PATOLOGIA E IMUNOLOGIA MOLECULAR DA UNIVERSIDADE DO PORTO)

发明人： Ana Paula SOARES DIAS FERREIRA ,  Hugo Joäo MARQUES PRAZERES ,  Catarina Miguel ALVES SALGADO ,  Rui Pedro MONTEIRO BATISTA ,  Joao Pedro RICO DE OLIVEIRA VINAGRE

IPC分类号： C12Q1/6886

CPC分类号： C12Q1/6886 ,  C12Q2600/156

摘要： The present invention refers to a method for the detection of the c.-124 C>T and c.-146 C>T mutations in Htert gene promoter. The referred method uses a reaction composition that comprises primers for amplification and probes for genotyping.Another aspect of this invention refers the primers and probes used in performing the aforementioned method with sequences, identified as SEQ ID nr.1 to SEQ ID nr.6, that display high specificity for these mutations, as well as compositions that contain them.The present invention further refers to a kit comprising the above mentioned compositions for detecting mutations c.-124 C>T and c.-146 C>T mutations in Htert gene promoter by conducting the present method invention.The method, gene sequences, compositions and kit of the present invention can be advantageously used for detecting trace amounts of c.-124 C>T and c.-146 C>T mutations, present in biological samples due to its high sensitivity and specificity for such mutations.The present invention can therefore be applied in early detection, identification, detection of recurrence or prediction and monitoring of diseases associated with those mutations, such as bladder carcinomas, thyroid carcinomas, squamous cell carcinoma, basal cell carcinomas, skin cancer, central nervous system cancers and hepatocellular carcinoma, among others and eventually provide the basis for appropriate treatment setting.Thus, the present invention falls within the technical field of medicine, pharmaceutics, molecular biology, biochemistry, and human related genetics.

公开(公告)号：US20190177798A1

公开(公告)日：2019-06-13

申请号：US16308990

申请日：2017-07-14

申请人： UNIVERSIDADE DO PORTO ,  IPATIMUP (INSTITUTO DE PATOLOGIA E IMUNOLOGIA MOLECULAR DA UNIVERSIDADE DO PORTO)

发明人： Berta Cecilia CAMPOS LIMA DE CARVALHO ,  Filipa ABREU GOMES DE CARVALHO ,  Carla Isabel GONCALVES DE OLIVEIRA ,  Patricia Joana MORAIS FERREIRA OLIVEIRA ,  Alexandra MATIAS PEREIRA DA CUNHA COELHO DE MACEDO

IPC分类号： C12Q1/6883

摘要： A new molecular based method for early screening of twin-to-twin transfusion syndrome (TTTS) of monochorionic twin pregnancies is provided in a rapid and non-invasive manner. Using real time quantitative PCR, this method is intended to quantify the expression of HBB, a new TTTS biomarker, in maternal plasma. In pregnant women with this condition, this biomarker is significantly reduced when compared to non-pregnant women, as well as pregnant women with both single and twin pregnancies without pathology. This method, if applied to all women with monochorionic twin pregnancies, will allow early screening of TTTS, benefiting both the mother and the fetuses, which can more quickly take advantage of an effective treatment with predictable improvement in fetuses' survival.