title: Screening for G71R mutation of the UGT1A1 gene in the Javanese-Indonesian and Malay-Malaysian populations.
abstract: BACKGROUND
  There are significant differences in the prevalence and severity of neonatal jaundice among various populations. Recently, it has been reported that a mutation of the UGT1A1 gene, glycine to arginine at codon 71 (G71R), is related to the development of neonatal jaundice in East Asian populations. However, whether the G71R mutation contributes to the high incidence of neonatal jaundice in different Asian populations remains unknown. The authors screened for this mutation in the Javanese-Indonesian and Malay-Malaysian populations.
  
  
  METHODS
  One hundred and thirty-six subjects were enrolled in this study: 68 Javanese-Indonesian adults and 68 Malay-Malaysian newborns (32 with jaundice and 36 without jaundice). Denaturing high-performance liquid chromatography (DHPLC) was used to screen for the G71R mutation, and the results were confirmed by nucleotide sequencing analysis.
  
  
  RESULTS
  With DHPLC, the authors easily and clearly detected seven subjects carrying the G71R mutation: two Javanese-Indonesian adults and five Malay-Malaysian newborns. In the 68 Javanese-Indonesian adults, the genotype distribution for G71R mutation was 66 G/G, two G/R and no R/R genotypes, and the mutated allele frequency was 0.015. In the 68 Malay-Malaysian newborns, genotype distribution for the mutation was 63 G/G, five G/R and no R/R genotypes, and the mutated allele frequency was 0.037. The genotype distributions did not differ significantly between the newborns with jaundice and those without jaundice.
  
  
  CONCLUSIONS
  The G71R mutation is present, but very rare, in Javanese-Indonesians and Malay-Malaysians. Thus, G71R mutation may not contribute to the high incidence of the neonatal jaundice in South-east Asian populations. DHPLC analysis is a very useful method for detecting the G71R mutation.
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine, Japan.
authors.forename: Retno
authors.initials: R
authors.lastname: Sutomo
authors.forename: Norlelawati A
authors.initials: NA
authors.lastname: Talib
authors.forename: Narazah M
authors.initials: NM
authors.lastname: Yusoff
authors.forename: Hans
authors.initials: H
authors.lastname: Van Rostenberghe
authors.forename: Ahmad H
authors.initials: AH
authors.lastname: Sadewa
authors.lastname: Sunarti
authors.forename: Abdul S M
authors.initials: AS
authors.lastname: Sofro
authors.forename: Naoki
authors.initials: N
authors.lastname: Yokoyama
authors.forename: Myeong J
authors.initials: MJ
authors.lastname: Lee
authors.forename: Masafumi
authors.initials: M
authors.lastname: Matsuo
authors.forename: Hisahide
authors.initials: H
authors.lastname: Nishio
mesh_terms: D000328:Adult; D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D005820:Genetic Testing; D005838:Genotype; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D007214:Indonesia / Q000453:epidemiology; D007223:Infant; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D008296:Malaysia / Q000453:epidemiology; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D000099148:UGT1A1 Enzyme
chemical_list: D003062:Codon; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme