- PMID
- Gene Name
- Molecular Event
- Function in UC
- 10091404
- UGT1A
- mutation
- Diagnosis
- Method
- A(TA)nTAA motif in the promoter region of the UGT
- Summary
- Our results demonstrated no difference in the percentage of homozygotes for the UGT1A (TA)7 variant associated with Gilbert's syndrome.
- Gilbert's syndrome and jaundice in glucose-6-phosphate dehydrogenase deficient neonates. Haematologica, 1999 Feb [Go to PubMed]
- The pathogenesis of the hyperbilirubinemia present in approximately 30% of neonates affected by glucose-6-phosphate dehydrogenase deficiency is an unsolved problem. We evaluated the effect of Gilbert's syndrome, the most common defect of bilirubin conjugation, on the hyperbilirubinemia of these neonates.
One hundred and two neonates affected by glucose-6-phosphate dehydrogenase deficiency were enrolled in this study: 56 had hyperbilirubinemia and 46 had normal bilirubin levels. The analysis of the A(TA)nTAA motif in the promoter region of the UGT1A gene was performed by means of PCR, followed by separation on 6% denaturing polycrylamide gel.
The frequency of the three different genotypes of the A(TA)nTAA motif was similar in the study and control groups. Our results demonstrated no difference in the percentage of homozygotes for the UGT1A (TA)7 variant associated with Gilbert's syndrome.
These findings indicate that Gilbert's syndrome does not account for the hyperbilirubinemia occurring in some neonates with glucose-6-phosphate dehydrogenase deficiency. Furthermore our results suggest that hemolysis is not the major event in the pathogenesis of hyperbilirubinemia in these patients. - 9580766
- UGT1A
- mutation
- Diagnosis
- Method
- a TA insertion in the promoter of UGT1A
- Summary
- newborn infants with the molecular marker for GS have an accelerated increase in Neonatal jaundice during the first 2 days of life.
- Gilbert syndrome accelerates development of neonatal jaundice. The Journal of pediatrics, 1998 Apr [Go to PubMed]
- Gilbert Syndrome (GS), associated with unconjugated hyperbilirubinemia and decreased bilirubin UDP-glucuronosyltransferase activity, is usually diagnosed after puberty. The role of GS in neonatal jaundice is unknown. This study tested the hypothesis that a recently identified molecular marker for GS (a TA insertion in the promoter of UGT1A, the gene encoding bilirubin UDP-glucuronosyltransferase) is associated with neonatal jaundice.
Transcutaneous jaundice index was measured shortly after birth and daily for the first week of life in 151 healthy infants. Genomic DNA was isolated from blood or buccal brushings, and the UGT1A promoter was amplified by the polymerase chain reaction to yield 90 (A[TA]6TAA, normal) or 92 (A[TA]7TAA, GS) base pair products. Statistical analysis used Kruskal-Wallis, Wilcoxon, and Fisher's exact tests.
Nineteen (13%) subjects were homozygous for the A(TA)7TAA polymorphism associated with GS. The A(TA)7TAA homozygotes had a greater increase in jaundice index during the first 2 days of life than heterozygotes or A(TA)6TAA homozygotes.
Although peak jaundice levels did not differ among groups, newborn infants with the molecular marker for GS have an accelerated increase in neonatal jaundice during the first 2 days of life.
2 pubmed articles have reported UGT1A mutation associated with Neonatal Jaundice.