分子遗传学检查诊断Crigler-Najjar综合征Ⅱ型3例

doi:10.3969/j.issn.1672-5069.2016.06.005

Abstract

Abstract: Objective To investigate the diagnosis of patients with Crigler-Najjar syndrome type II （CN-II）. Methods Three patients with sustained unconjugated hyperbilirubinemia were admitted to our Department of Infectious Diseases，First Affiliated Hospital，Nanjing Medical University. The blood genome DNA was extracted，and five exons and their flanking sequences of uridine diphosphate glucuronosyltransferase 1A1 gene（UGT1Al） were amplified by polymerase chain reaction and the products were directly sequenced. Results Substitution of thymine for guanine at loci 1456 in the 5th exon existed leading to the change of amino acid from tyrosine to aspartate at 486th position of the corresponding protein（c．1456T>G：p．Y486D）． So the three patients were confirmed with CN-Ⅱ． Conclusions A given patient with sustained unconjugated hyperbilirubinemia should be applied early to the gene analysis for the diagnosis of Crigler-Najjar syndrome.

Key words: Crigler-Najjar syndrome, Uridine diphosphate glucuronosyltransferase, Gene mutation

Shi Ping，Shen Jiandong， Liu Yao，et al.. Mutation of uridine diphosphate glucuronosyltransferase in three patients with Crigler-Najjar syndrome type II[J]. JOURNAL OF PRACTICAL HEPATOLOGY, 2016, 19(6): 654-656.

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Mutation of uridine diphosphate glucuronosyltransferase in three patients with Crigler-Najjar syndrome type II

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