| Co-Investigator(Kenkyū-buntansha) |
MATSUO Masafumi Kobe University, Graduate School of Medicine, Professor, 大学院・医学系研究科, 教授 (10157266)
TAKASIMA Yasuhiro Kobe University, Graduate School of Medicine, Associate Professor, 大学院・医学系研究科, 助教授 (40281141)
YOKOYAMA Naoki Kobe University, Hospital, Assistant Professor, 医学部附属病院, 講師 (20314487)
NISHIYAMA Kaoru Kobe University, Faculty of Medicine, Professor, 医学部, 教授 (00150061)
SIRAKAWA Taku Kobe University, Faculty of Medicine, Associate Professor, 医学部, 助教授 (30171044)
野津 寛大 神戸大学, 大学院・医学系研究科, 助手 (70362796)
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| Budget Amount *help |
¥11,500,000 (Direct Cost: ¥11,500,000)
Fiscal Year 2004: ¥5,300,000 (Direct Cost: ¥5,300,000)
Fiscal Year 2003: ¥6,200,000 (Direct Cost: ¥6,200,000)
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| Research Abstract |
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.
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