title: Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian population.
abstract: BACKGROUND
  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.
  
  
  OBJECTIVE
  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.
authors.affiliation: Department of Paediatrics, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kelantan, Malaysia.
authors.forename: Surini
authors.initials: S
authors.lastname: Yusoff
authors.forename: Hans
authors.initials: H
authors.lastname: Van Rostenberghe
authors.forename: Narazah M
authors.initials: NM
authors.lastname: Yusoff
authors.forename: Norlelawati A
authors.initials: NA
authors.lastname: Talib
authors.forename: Noraida
authors.initials: N
authors.lastname: Ramli
authors.forename: N Zainal A N
authors.initials: NZ
authors.lastname: Ismail
authors.forename: W Pauzi W
authors.initials: WP
authors.lastname: Ismail
authors.forename: Masafumi
authors.initials: M
authors.lastname: Matsuo
authors.forename: Hisahide
authors.initials: H
authors.lastname: Nishio
mesh_terms: D002851:Chromatography, High Pressure Liquid; D005787:Gene Frequency; D005878:Gilbert Disease / Q000235:genetics; D014453:Glucuronosyltransferase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D051556:Hyperbilirubinemia, Neonatal / Q000235:genetics; D007231:Infant, Newborn; D008296:Malaysia / Q000453:epidemiology; D009154:Mutation; D011401:Promoter Regions, Genetic / Q000235:genetics; D000099148:UGT1A1 Enzyme
chemical_list: D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme