吉尔伯特综合征中持续性黄疸与UGT1A1基因多态性（G71R）的关联

The Association between Prolonged Jaundice and UGT1A1 Gene Polymorphism (G71R) in Gilbert's Syndrome.

作者信息

Alaee Ehsan, Bazrafshan Behnaz, Azaminejad Ali Reza, Fouladinejad Mahnaz, Shahbazi Majid

机构信息

Assistant Professor, Department of Paediatrics and Neonatology, Neonatal and Children's Health Research Center, Golestan, University of Medical Sciences , Gorgan, Iran .

Medical Cellular & Molecular Research Center, Department of Medical Genetics, Taleghani Children's Hospital, Golestan University of Medical Sciences , Gorgan, Iran .

出版信息

J Clin Diagn Res. 2016 Nov;10(11):GC05-GC08. doi: 10.7860/JCDR/2016/19004.8810. Epub 2016 Nov 1.

DOI:10.7860/JCDR/2016/19004.8810

PMID:28050400

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5198353/

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 present study was conducted.

AIM

The aim of this study was to determine the association between prolonged jaundice and G71R polymorphism in Gilbert's syndrome.

MATERIALS AND METHODS

This case-control study was conducted at Taleghani Children's Hospital of Gorgan, Iran. The study group consisted of 87 icteric patients (aged more than 2 weeks) with an indirect bilirubin level higher than 10mg/dL. The control group consisted of 81 newborns without jaundice. The two groups were matched in terms of age and gender. DNA extraction was performed by "phenol-chloroform" method. Polymerase Chain Reaction with Confronting Two-Pair Primers (PCR-CTPP) was applied to amplify G71R polymorphism.

RESULTS

Overall, 84% and 64% of subjects in the study and control groups were male, respectively. The distribution of Gilbert genotype was not significantly different between the two groups (p=0.772). There was a correlation between prolonged jaundice in males and UGT1A1 G71R polymorphism (p =0.03). In the study group, 5(5.7%) subjects were homozygous (for A/A), 73 (83.9%) were heterozygous (for A/G), and 9(10.3%) were normal (for G/G). In the control group, 3(3.7%) participants were homozygous (A/A), 68(84%) were heterozygous (A/G) and 10 (12.3%) were normal (G/G).

CONCLUSION

There was no association between prolonged jaundice and G71R polymorphism, even though a relationship was revealed between male gender and the mentioned polymorphism.

摘要

引言

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

目的

本研究旨在确定持续性黄疸与吉尔伯特综合征中G71R多态性之间的关联。

材料与方法

本病例对照研究在伊朗戈尔甘的塔莱加尼儿童医院进行。研究组由87名间接胆红素水平高于10mg/dL的黄疸患者（年龄超过2周）组成。对照组由81名无黄疸的新生儿组成。两组在年龄和性别方面进行了匹配。采用“酚 - 氯仿”法进行DNA提取。应用双引物对聚合酶链反应（PCR - CTPP）扩增G71R多态性。

结果

总体而言，研究组和对照组中分别有84%和64%的受试者为男性。两组之间吉尔伯特基因型的分布无显著差异（p = 0.772）。男性持续性黄疸与UGT1A1 G71R多态性之间存在相关性（p = 0.03）。在研究组中，5名（5.7%）受试者为纯合子（A/A），73名（83.9%）为杂合子（A/G），9名（10.3%）为正常（G/G）。在对照组中，3名（3.7%）参与者为纯合子（A/A），68名（84%）为杂合子（A/G），10名（12.3%）为正常（G/G）。