Mutation analysis of UGT1A1 gene in patients with unconjugated hyperbilirubinemia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 425-428, 2013.
Article
in Chinese
| WPRIM
| ID: wpr-237234
ABSTRACT
<p><b>OBJECTIVE</b>To analyze potential mutations of uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) gene in patients with unconjugated hyperbilirubinemia, and to explore the correlation between the mutations and total serum bilirubin levels.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples of patients. Coding sequence and promoter region of the UGT1A1 gene were amplified. Mutations were identified through DNA sequencing.</p><p><b>RESULTS</b>Mutations of the UGT1A1 gene were found in 46 out of 61 patients with unconjugated hyperbilirubinemia. Five types of mutations were detected, with a decreasing order of 211G>A, TA insertion in the TATAA promoter element, 686C>A, 1091C>T and 1352C>T. Compared with those carrying a single homozygous mutation or compound heterozygous mutations, total serum bilirubin was higher in those carrying a homozygous mutation in combination with other heterozygous mutations (P< 0.05). Based on the UGT1A1 gene mutations and level of total serum bilirubin, 44 patients were diagnosed with Gilbert syndrome, and 2 were diagnosed with Crigler-Najjar syndrome type 2.</p><p><b>CONCLUSION</b>The level of total serum bilirubin is correlated with the number of UGT1A1 gene mutations as well as their heterozygous or homozygous status.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Bilirubin
/
Blood
/
DNA Mutational Analysis
/
Molecular Sequence Data
/
Base Sequence
/
Case-Control Studies
/
Glucuronosyltransferase
/
Genetics
/
Heterozygote
/
Homozygote
Type of study:
Observational study
Limits:
Adolescent
/
Adult
/
Aged
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2013
Type:
Article
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