Genetic testing of UGT1A1 in the diagnosis of Gilbert syndrome: The discovery of seven novel variants in the Chinese population.
Genetic testing of UGT1A1 in the diagnosis of Gilbert syndrome: The discovery of seven novel variants in the Chinese population.
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吉尔伯特综合征诊断中的UGT 1A1基因检测：在中国人群中发现7种新变异
DOI：
10.1002/mgg3.1958
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发表时间：
2022-07
影响因子：
2
通讯作者：
中科院分区：
文献类型：
--
作者：
应用UGT 1A1基因检测技术对吉尔伯特综合征进行诊断，并分析其致病变异体在中国人群中的分布特点。从非结合型高胆红素血症患者的全血样本中提取DNA，PCR扩增后进行UGT 1A1基因测序。与参考序列比对后，鉴定已知致病性变异，分析变异谱，并利用在线突变预测工具预测新变异的致病性。共117例患者经UGT 1A1基因诊断确诊为吉尔伯特综合征，其中最常见的致病变异包括启动子A（TA）7TAA插入和p. Gly71Arg错义变异。还鉴定了以下新变体：p.Ala61Gly、p.Tyr67Phe、p.Leu166Alafs*16、p.Arg240Lys、p.Ser306Phe、p.Arg341Gln和p.Glu424* 变体。UGT 1A1基因检测在临床实践中有助于吉尔伯特综合征的确诊和鉴别诊断。中国人群的致病性变异谱与其他亚洲人群相似。本研究中发现的新致病性变异需要进一步研究。我们鉴定了7个新的UGT 1A1变异体，扩大了UGT 1A1变异体的谱，为相关的遗传学诊断提供了新的参考。我们进一步研究了中国吉尔伯特综合征患者的变异谱特征。
Genetic testing of UGT1A1 was used to facilitate the diagnosis of Gilbert syndrome, and analyze the distribution features of pathogenic variants in the Chinese population. DNA was extracted from whole blood samples of patients with unconjugated hyperbilirubinemia, and sequencing of the UGT1A1 gene was performed after PCR amplification. After alignment with reference sequences, the known pathogenic variants were identified, the variant spectrum was analyzed, and the pathogenicity of novel variants was predicted using online mutation prediction tools. A total of 117 patients were confirmed with Gilbert syndrome by UGT1A1 genetic diagnosis, where the most common pathogenic variants included promoter A(TA)7TAA insertion and p.Gly71Arg missense variant. Following novel variants were also identified: p.Ala61Gly, p.Tyr67Phe, p.Leu166Alafs*16, p.Arg240Lys, p.Ser306Phe, p.Arg341Gln, and p.Glu424* variants. Genetic testing of UGT1A1 in clinical practices could facilitate confirming Gilbert syndrome and performing differential diagnosis. The pathogenic variant spectrum in the Chinese population was similar to other Asian populations. The novel pathogenic variants identified in this study require further investigation. We identified 7 novel variants, which expanded the spectrum of UGT1A1 variants, and provided new references for relevant genetic diagnosis. We furthermore investigated the features of the variant spectrum in Chinese patients with Gilbert syndrome.
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影响因子：
1.6
作者：
Abuduxikuer, Kuerbanjiang;Fang, Ling-Juan;Wang, Jian-She
通讯作者：
Wang, Jian-She
DOI：
10.1097/00008571-200008000-00007
发表时间：
2000-08-01
期刊：
PHARMACOGENETICS
影响因子：
--
作者：
Huang, CS;Luo, GA;Yang, SS
通讯作者：
Yang, SS
影响因子：
3.9
作者：
Kaniwa, N;Kurose, K;Hasegawa, R
通讯作者：
Hasegawa, R
影响因子：
3.9
作者：
Servedio, Veronica;d'Apolito, Maria;Iolascon, Achille
通讯作者：
Iolascon, Achille
影响因子：
3.6
作者：
Memon N;Weinberger BI;Hegyi T;Aleksunes LM
通讯作者：
Aleksunes LM