HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian population.

AbstractBACKGROUND:
Gilbert syndrome is caused by defects in the uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) gene. These mutations differ among different populations and many of them have been found to be genetic risk factors for the development of neonatal jaundice.
OBJECTIVES:
The objective was to determine the frequencies of the following mutations in the UGT1A1 gene: A(TA)7TAA (the most common cause of Gilbert syndrome in Caucasians), G71R (more common in the Japanese and Taiwanese population), and G493R (described in a homozygous Malay woman with Crigler-Najjar syndrome type 2) in a group of Malaysian babies with hyperbilirubinemia and a group of normal controls.
METHODS:
The GeneScan fragment analysis was used to detect the A(TA)7TAA variant. Mutation screening of both G71R and G493R was performed using denaturing high performance liquid chromatography.
RESULTS:
Fourteen out of fifty-five neonates with hyperbilirubinemia (25%) carried the A(TA)7TAA mutation (10 heterozygous, 4 homozygous). Seven out of fifty controls (14%) carried this mutation (6 heterozygous, 1 homozygous). The allelic frequencies for hyperbilirubinemia and control patients were 16 and 8%, respectively (p=0.20). Heterozygosity for the G71R mutation was almost equal among both groups (5.5% for hyperbilirubinemia patients and 6.0% for controls; p=0.61). One subject (1.8%) in the hyperbilirubinemia group and none of the controls were heterozygous for the G493R mutation (p=0.476).
CONCLUSIONS:
The A(TA)7TAA seems more common than the G71R and G493R mutations in the Malaysian population.
AuthorsSurini Yusoff, Hans Van Rostenberghe, Narazah M Yusoff, Norlelawati A Talib, Noraida Ramli, N Zainal A N Ismail, W Pauzi W Ismail, Masafumi Matsuo, Hisahide Nishio
JournalBiology of the neonate (Biol Neonate) Vol. 89 Issue 3 Pg. 171-6 ( 2006) ISSN: 0006-3126 [Print] Switzerland
PMID16210851 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
CopyrightCopyright (c) 2006 S. Karger AG, Basel.
Chemical References
  • UGT1A1 enzyme
  • Glucuronosyltransferase
Topics
  • Chromatography, High Pressure Liquid
  • Gene Frequency
  • Gilbert Disease (genetics)
  • Glucuronosyltransferase (genetics)
  • Heterozygote
  • Humans
  • Hyperbilirubinemia, Neonatal (genetics)
  • Infant, Newborn
  • Malaysia (epidemiology)
  • Mutation
  • Promoter Regions, Genetic (genetics)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: