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目的建立SLC25A13基因突变分析方法,分析19例临床疑似新生儿肝内胆汁淤积症(NICCD)患儿SLC25A13基因突变情况。方法选取2004—2006年间在广州市儿童医院住院,临床表现为黄疸、肝功能异常、低血糖和(或)低蛋白血症,疑似NICCD的患儿19例,应用聚合酶链反应-DNA测序方法对其SLC25A13基因上14种已知突变进行检测分析。结果19例患儿中8例患儿为SLC25A13基因纯合或杂合突变,6例为单个SLC25A13等位基因携带突变。共检测出两种突变类型,即851~854del(突变I)和IVS6+5G>A(突变X)。突变I占86.4%(19/22),突变X占13.6%(3/22)。结论出现不明原因黄疸、肝功能异常、低血糖和(或)低蛋白血症患儿需高度警惕NICCD可能,应行相关基因突变分析以诊断和鉴别诊断。突变I是本研究中NICCD患儿最常见的突变类型。聚合酶链反应-DNA测序是检测SLC25A13基因突变,诊断NICCD的有效可行方法。
Objective To establish a method to analyze the gene mutation of SLC25A13 and analyze the mutation of SLC25A13 gene in 19 cases of clinically suspected neonate intrahepatic cholestasis (NICCD). Methods Totally 19 children with NICCD who were hospitalized in Children’s Hospital of Guangzhou from 2004 to 2006 with clinical manifestations of jaundice, abnormal liver function, hypoglycemia and / or hypoalbuminemia, and polymerase chain reaction-DNA sequencing The 14 known mutations in its SLC25A13 gene were analyzed. Results Eight of the 19 children were homozygous or heterozygous for the SLC25A13 gene and six for the single SLC25A13 allele. Two types of mutations were detected: 851-854del (mutation I) and IVS6 + 5G> A (mutation X). Mutation I accounted for 86.4% (19/22), mutation X accounted for 13.6% (3/22). Conclusions Children with unknown causes of jaundice, abnormal liver function, hypoglycemia and / or hypoproteinemia should be highly alert to NICCD. Mutations related to gene mutation should be diagnosed and diagnosed. Mutation I is the most common type of mutation in children with NICCD in this study. Polymerase chain reaction-DNA sequencing is to detect SLC25A13 gene mutation, NICCD diagnosis is an effective and feasible method.