Report 5
Title Detecting possibility of expressing disease condition and presence of cystic fibrosis (CF) associated mutation (△F508 and G551D) in DNA sample using allele specific polymerase chain reaction (ASPCR).
Abstract
Elevated levels of blood immunoreactive trypsinogen (IRT) may be obtained in patients with cystic fibrosis (CF), when it is detected in primary screen, DNA analysis is performed to look for the 12 most common mutations associated with CF.
This study aimed to investigate presence of the two most common CF associated mutations, △F508 and G551D, at exon 10 and 11 respectively, of a baby who shoed elevated levels of blood IRT in primary screen. The study was performed by detecting specific DNA target sequence amplification …show more content…
Introduction (including hypothesis and aim)
Cystic fibrosis (CF) is most common life-threatening genetically inheritable, autosomal recessive, disease caused by abnormalities in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Patient with CF tend to show abnormalities in screening test, elevated level of blood immunoreactive trypsinogen (IRT), and tend to experience life-long morbidity and premature mortality associated with lung, pancreas, liver and gastrointestinal disease. In order to provide appropriate treatment, it is required to detect the presence of CF mutation and possibility of the patient expressing the disease.
This study specifically investigates a patient showing abnormalities in screening test and define presence of CF by performing an amplification-refractory mutation system (ARMS). It was hypothesized that abnormalities in screening test is due to two most common mutation (△F508 and G551D) associated with cystic fibrosis. This study aimed to detect △F508 and G551D mutation in a patient DNA sample associated with CF using
Title Detecting possibility of expressing disease condition and presence of cystic fibrosis (CF) associated mutation (△F508 and G551D) in DNA sample using allele specific polymerase chain reaction (ASPCR).
Abstract
Elevated levels of blood immunoreactive trypsinogen (IRT) may be obtained in patients with cystic fibrosis (CF), when it is detected in primary screen, DNA analysis is performed to look for the 12 most common mutations associated with CF.
This study aimed to investigate presence of the two most common CF associated mutations, △F508 and G551D, at exon 10 and 11 respectively, of a baby who shoed elevated levels of blood IRT in primary screen. The study was performed by detecting specific DNA target sequence amplification …show more content…
Introduction (including hypothesis and aim)
Cystic fibrosis (CF) is most common life-threatening genetically inheritable, autosomal recessive, disease caused by abnormalities in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Patient with CF tend to show abnormalities in screening test, elevated level of blood immunoreactive trypsinogen (IRT), and tend to experience life-long morbidity and premature mortality associated with lung, pancreas, liver and gastrointestinal disease. In order to provide appropriate treatment, it is required to detect the presence of CF mutation and possibility of the patient expressing the disease.
This study specifically investigates a patient showing abnormalities in screening test and define presence of CF by performing an amplification-refractory mutation system (ARMS). It was hypothesized that abnormalities in screening test is due to two most common mutation (△F508 and G551D) associated with cystic fibrosis. This study aimed to detect △F508 and G551D mutation in a patient DNA sample associated with CF using