诊断学理论与实践2012，Vol.11Issue(4)：344-348,5.DOI:10.3969/j.issn.1671-2870.2012.04.06
一个Gilbert综合征家系的基因诊断和遗传分析
Gene diagnosis and genetic analysis of a Gilbert's syndrome pedigree
曹雅楠 1王学锋 2丁秋兰 3许冠群 3张利伟 3戴菁 3陆晔玲 3奚晓东 3王鸿利2
作者信息
- 1. 上海交通大学医学院附属瑞金医院临床检验科,上海 200025
- 2. 上海血液学研究所,上海 200025
- 3. 上海交通大学医学院附属瑞金医院临床检验科
- 折叠
摘要
Abstract
Objective To diagnosis a Gilbert' s syndrome patient on the basis of gene, testing her first degree relatives for the relative gene and making an analysis of heredity. Methods By ruling out other related diseases and in accordance with the result of low calorie diet test and characteristic history, a case of Gilbert's syndrome was diagnosed. Blood samples were collected from the patient and her first degree relatives and the genomic DNA was extracted. Amplified the relative gene UGT1A1 by polymerase chain reaction (PCR) and mutations were identified by direct sequencing. Results The patient's unconjugated bilirubin (UCB) is higher than normal and lead to a high total bilirubin. The low calorie diet test showed that after taking the low calorie diet , the patient's UCB was two times higher than before. The patient and her sister had a TA insertion in TATA box of the promoter region as A (TA)7TAA . Their parents are both heterozygote individuals with A (TA)6/(TA)7TAA. Conclusions The TA insertion in the promoter region of the UGT1A1 gene affects the bilirubin metabolism of the patient. The A(TA)7TAA is essential for the pathogenesis of Gilbert's syndrome and is inherited in an autosomal recessive manner.关键词
Gilbert综合征/尿苷二磷酸葡萄糖醛酸转移酶/突变/家系Key words
Gilbert's syndrome/ Undine diphosphoglucuronate transferase/ Mutation/ Pedigree分类
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曹雅楠,王学锋,丁秋兰,许冠群,张利伟,戴菁,陆晔玲,奚晓东,王鸿利..一个Gilbert综合征家系的基因诊断和遗传分析[J].诊断学理论与实践,2012,11(4):344-348,5.
