Molecular epidemiology of neonatal Gilbert's syndrome in Malaysia

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1 (Purpose) To clarify whether the UGT1A1 mutations contribute to the high incidence of neonatal jaundice in Southeast Asian populations, we screened for the mutations in the Malay-Malaysian populations. A total of 105 Malay-Malaysian newborn infants were enrolled in this study : 55 with jaundice and 50 without jaundice (non-jaundice). We used denaturing high-performance liquid chromatography (DHPLC) to detect the mutations, and GeneScan analysis to determine the TA-repeat number of the TATA box.2 (G71R mutation) In the jaundice group, the genotype distribution for G71R mutation was as follows : 52 G/G, three G/R and no R/R infants, and the mutated allele frequency was 0.027. In the non-jaundice group, genotype distribution for the mutation was as follows : 47 G/G, three G/R and no R/R infants, and the mutated allele frequency was 0.030.3 (G493R mutation) In the jaundice group, the genotype distribution for G493R mutation was as follows : 50 G/G, one G/R and no R/R infants, and the mutated allele frequency was 0.009. In the non-jaundice group, genotype distribution for the mutation was as follows : 50 G/G, no G/R and no R/R infants, and the mutated allele frequency was 0.000.4 (variant TATA box) In the jaundice group, the genotype distribution for TA-7 variant was as follows : 41 TA-6/TA-6, ten TA-6/TA-7 and four TA-7/TA-7 infants, and the mutated allele frequency was 0.16. In the non-jaundice group, genotype distribution for the mutation was as follows : 43 TA-6/TA-6, six TA-6/TA-7 and one TA-7/TA-7 infants, and the mutated allele frequency was 0.08.5 (Conclusion) The UGT1A1 mutations were not rare in Malay-Malaysian infants (〜30%), indicating the high incidence of Gilbert syndrome in the Malaysian population. The UGT1A1 mutations, especially variant TATA-box, were found more frequently in the jaundice group, suggesting that they are risk factors for the development of neonatal jaundice.