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吉尔伯特综合征中持续性黄疸与TATA盒二核苷酸重复序列之间的关联

The Association between Prolonged Jaundice and TATA Box Dinucleotide Repeats in Gilbert's Syndrome.

作者信息

Pasha Yadollah Zahed, Kacho Mousa Ahmadpor, Niaki Haleh Akhavan, Tarighati Mehdi, Alaee Ehsan

机构信息

Professor, Department of Paediatrics, Paediatric Research Center, Amirkola Children's Hospital, School of Medicine, Babol University of Medical Sciences, Babol, Iran.

Associate Professor, Department of Genetics, Cellular and Molecular Biology Research Center (CMBRC), Babol University of Medical Sciences, Babol, Iran.

出版信息

J Clin Diagn Res. 2017 Sep;11(9):GC05-GC07. doi: 10.7860/JCDR/2017/19376.10597. Epub 2017 Sep 1.

Abstract

INTRODUCTION

Jaundice is a common condition during the neonatal period. Prolonged jaundice occurs in a large number of breastfed infants, considering the impact of genetic factors on the incidence of jaundice.

AIM

To determine the association between prolonged jaundice and TATA box dinucleotide repeats in Gilbert's Syndrome (GS).

MATERIALS AND METHODS

In this case-control study, the case group consisted of 51 neonates with jaundice, aged more than two weeks with indirect bilirubin level higher than 10 mg/dl. Acute diseases, mother's use of phenobarbital and other medications were the exclusion criteria. The control group consisted of 54 newborns without jaundice. The two groups were matched in terms of age and sex. TATA box polymorphisms in the promoter region of UGT1A1 gene were evaluated using Polymerase Chain Reaction (PCR) in order to determine TATA box dinucleotide repeats.

RESULTS

Overall, 64.7% and 50% of subjects in the case and control groups were male, respectively (p=0.168). The mean age of neonates in the case and control groups was 20.1±7.1days and 18.8±4.1 days, respectively. The distribution of Gilbert genome was not significantly different between the two groups. In the case group, 13.7% of the subjects were homozygous, 37.3% were heterozygous and 49% were normal. In the control group, 7.4% of the participants were homozygous, 35.2% were heterozygous and 57.4% were normal.

CONCLUSION

The results of this study showed an association between TATA box polymorphism and prolonged jaundice in neonates which revealed that TATA box polymorphism is an important risk to increase and extend icterus.

摘要

引言

黄疸是新生儿期的常见病症。鉴于遗传因素对黄疸发病率的影响,大量母乳喂养的婴儿会出现持续性黄疸。

目的

确定吉尔伯特综合征(GS)中持续性黄疸与TATA盒二核苷酸重复序列之间的关联。

材料与方法

在这项病例对照研究中,病例组由51例黄疸新生儿组成,年龄超过两周,间接胆红素水平高于10mg/dl。排除标准为急性疾病、母亲使用苯巴比妥及其他药物。对照组由54例无黄疸的新生儿组成。两组在年龄和性别方面进行了匹配。为了确定TATA盒二核苷酸重复序列,使用聚合酶链反应(PCR)评估UGT1A1基因启动子区域的TATA盒多态性。

结果

总体而言,病例组和对照组中分别有64.7%和50%的受试者为男性(p=0.168)。病例组和对照组新生儿的平均年龄分别为20.1±7.1天和18.8±4.1天。两组之间吉尔伯特基因组的分布无显著差异。在病例组中,13.7%的受试者为纯合子,37.3%为杂合子,49%为正常。在对照组中,7.4%的参与者为纯合子,35.2%为杂合子,57.4%为正常。

结论

本研究结果显示新生儿TATA盒多态性与持续性黄疸之间存在关联,这表明TATA盒多态性是增加和延长黄疸的重要风险因素。

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本文引用的文献

1
The Association between Prolonged Jaundice and UGT1A1 Gene Polymorphism (G71R) in Gilbert's Syndrome.
J Clin Diagn Res. 2016 Nov;10(11):GC05-GC08. doi: 10.7860/JCDR/2016/19004.8810. Epub 2016 Nov 1.
2
Multiple variants in UGT1A1 gene are factors to develop indirect hyper-bilirubinemia.
Hepatobiliary Surg Nutr. 2014 Aug;3(4):194-8. doi: 10.3978/j.issn.2304-3881.2014.08.04.
3
Relation between Neonatal Icter and Gilbert Syndrome in Gloucose-6-Phosphate Dehydrogenase Deficient Subjects.
J Clin Diagn Res. 2014 Mar;8(3):63-5. doi: 10.7860/JCDR/2014/6674.4108. Epub 2014 Mar 15.
5
Gilbert-Meulengracht's syndrome and pharmacogenetics: is jaundice just the tip of the iceberg?
Drug Metab Rev. 2010 Feb;42(1):168-81. doi: 10.3109/03602530903209429.
6
Rapid UGT1A1 (TA)(n) genotyping by high resolution melting curve analysis for Gilbert's syndrome diagnosis.
Clin Chim Acta. 2010 Feb;411(3-4):246-9. doi: 10.1016/j.cca.2009.11.013. Epub 2009 Nov 20.
8
[Inherited disorders of bilirubin metabolism].
Minerva Pediatr. 2005 Apr;57(2):53-63.
9
Relationship between bilirubin UDP-glucuronosyl transferase 1A1 gene and neonatal hyperbilirubinemia.
Pediatr Res. 2002 Oct;52(4):601-5. doi: 10.1203/00006450-200210000-00022.
10
Neonatal hyperbilirubinemia and Gilbert's syndrome.
J Perinat Med. 2002;30(2):166-9. doi: 10.1515/JPM.2002.021.

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