The purpose of this study is to compare the demographic, metabolic, and genomic characteristics of patients who develop severe hyperbilirubinemia to patients who never developed a significant bilirubin level.
Name: Gene mutation sample
There are 8 SNPs
The UGT1A1 gene polymorphisms refer to those genetic defects found to be associated with Gilbert's Syndrome, including a promoter defect (T-3263G) that disrupts a transcription regulatory site, the TA repeats promoter polymorphism, and four mutations within the coding region (G211A, C686A, C1091T, and T1456G). --- G211A --- --- C686A --- --- C1091T ---
The gene mutations we will test for are: - Glucose-6-phosphate Dehydrogenase Deficiency [G6PD] gene mutations - African A- mutation (G202A;A376G) - The common Mediterranean mutation (C563T) - Two common Chinese mutations (G1376T and G1388A) - UGT1A1 polymorphism. --- G202A --- --- C563T ---
The UGT1A1 gene polymorphisms refer to those genetic defects found to be associated with Gilbert's Syndrome, including a promoter defect (T-3263G) that disrupts a transcription regulatory site, the TA repeats promoter polymorphism, and four mutations within the coding region (G211A, C686A, C1091T, and T1456G). --- G211A --- --- C686A ---
The gene mutations we will test for are: - Glucose-6-phosphate Dehydrogenase Deficiency [G6PD] gene mutations - African A- mutation (G202A;A376G) - The common Mediterranean mutation (C563T) - Two common Chinese mutations (G1376T and G1388A) - UGT1A1 polymorphism. --- G202A --- --- C563T --- --- G1376T ---
The gene mutations we will test for are: - Glucose-6-phosphate Dehydrogenase Deficiency [G6PD] gene mutations - African A- mutation (G202A;A376G) - The common Mediterranean mutation (C563T) - Two common Chinese mutations (G1376T and G1388A) - UGT1A1 polymorphism. --- G202A --- --- C563T --- --- G1376T --- --- G1388A ---
The gene mutations we will test for are: - Glucose-6-phosphate Dehydrogenase Deficiency [G6PD] gene mutations - African A- mutation (G202A;A376G) - The common Mediterranean mutation (C563T) - Two common Chinese mutations (G1376T and G1388A) - UGT1A1 polymorphism. --- G202A ---
The UGT1A1 gene polymorphisms refer to those genetic defects found to be associated with Gilbert's Syndrome, including a promoter defect (T-3263G) that disrupts a transcription regulatory site, the TA repeats promoter polymorphism, and four mutations within the coding region (G211A, C686A, C1091T, and T1456G). --- G211A ---
The UGT1A1 gene polymorphisms refer to those genetic defects found to be associated with Gilbert's Syndrome, including a promoter defect (T-3263G) that disrupts a transcription regulatory site, the TA repeats promoter polymorphism, and four mutations within the coding region (G211A, C686A, C1091T, and T1456G). --- G211A --- --- C686A --- --- C1091T --- --- T1456G ---