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Report for Clinical Trial NCT00383318

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Demographic, Metabolic, and Genomic Description of Neonates With Severe Hyperbilirubinemia

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.

NCT00383318 Hyperbilirubinemia Jaundice
MeSH:Jaundice Hyperbilirubinemia
HPO:Jaundice

1 Interventions

Name: Gene mutation sample

Type: Procedure



Time Perspective: Prospective


There are 8 SNPs

SNPs


1 C1091T

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 ---


2 C563T

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 ---


3 C686A

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 ---


4 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 ---


5 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 --- --- C563T --- --- G1376T --- --- G1388A ---


6 G202A

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 ---


7 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 ---


8 T1456G

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 ---



HPO Nodes


HPO: