胆汁淤积
外显子
基因
复合杂合度
胃肠病学
遗传分析
阿拉吉尔综合征
生物
杂合子优势
遗传学
内科学
突变
静脉血
基因突变
医学
基因型
作者
Ling Wang,Xinran Cheng,Yan Li,Wei Yan,Furong Tang,Xin Dong,Yuchao Yuan,Yanmei Xie
出处
期刊:PubMed
日期:2016-10-01
卷期号:33 (5): 670-3
标识
DOI:10.3760/cma.j.issn.1003-9406.2016.05.020
摘要
To analyze the clinical features and potential mutations of the SLC25A13 gene in a boy affected with neonatal intrahepatic cholestasis.Clinical data and peripheral venous blood sample of the child, and peripheral venous blood samples of both parents, were collected. All coding exons of the SLC25A13 gene were amplified with PCR and subjected to direct DNA sequencing.The boy was found to be a compound heterozygote carrying c.851_854delGTAT and IVS16ins3kb mutations of the SLC25A13 gene, which were respectively inherited from his mother and father.Based on its clinical and genetic features, the patient was diagnosed with neonatal intrahepatic cholestasis caused by citrin deficiency.
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