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Molecular epidemiology of neonatal Gilbert's syndrome in Malaysia

马来西亚新生儿吉尔伯特综合症的分子流行病学

基本信息

批准号：
15406036
负责人：
NISHIO Hisahide
金额：
$ 7.36万
依托单位：
Kobe University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (B)
财政年份：
2003
资助国家：
日本
起止时间：
2003 至 2004
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-15406036/
关键词：
neonatal jaundice Gilbert syndrome the UGT1A1 gene G71R mutation G493R mutation TATA-box Malaysian UGT1 A1遺伝子ジャワ・インドネシア人マレー・マレーシア人 DHPLCスクリーニング

项目摘要

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.

1（目的）为了阐明 UGT1A1 突变是否导致东南亚人群新生儿黄疸高发，我们筛查了马来裔马来西亚人群中的突变。共有 105 名马来裔马来西亚新生儿参与这项研究：55 名患有黄疸，50 名没有黄疸（非黄疸）。采用变性高效液相色谱（DHPLC）检测突变，GeneScan分析确定TATA盒的TA重复次数。2（G71R突变）黄疸组G71R突变基因型分布为：52个G/G、3个G/R和无R/R婴儿，突变等位基因频率为0.027。在非黄疸组中，突变的基因型分布如下：47个G/G、3个G/R和无R/R婴儿，突变等位基因频率为0.030.3（G493R突变）在黄疸组中，G493R突变的基因型分布如下：50个G/G、1个G/R和无R/R婴儿，以及突变等位基因频率为 0.009。在非黄疸组中，突变的基因型分布如下：50个G/G、无G/R和无R/R婴儿，突变等位基因频率为0.000.4（变异TATA盒）在黄疸组中，TA-7变异的基因型分布如下：41个TA-6/TA-6、10个TA-6/TA-7和4个TA-7/TA-7婴儿，以及突变者等位基因频率为0.16。在非黄疸组中，突变基因型分布如下：43个TA-6/TA-6、6个TA-6/TA-7和1个TA-7/TA-7婴儿，突变等位基因频率为0.08.5（结论）UGT1A1突变在马来裔马来西亚婴儿中并不罕见（〜30%），表明马来西亚人群中吉尔伯特综合症的发病率很高。 UGT1A1突变，尤其是TATA-box突变，在黄疸组中更常见，表明它们是新生儿黄疸发生的危险因素。