疑似新生儿肝内胆汁淤积症SLC25A13基因突变检测分析  

Analysis SLC25A13 gene mutation in suspected patients of NICCD

作　　者：卢致琨[1] 刘丽[1] 李秀珍[1] 程静[1] 梅慧芬[1] 

机构地区：[1]广州医学院附属广州市儿童医院内分泌代谢科,广东广州510120

出　　处：《中国实用儿科杂志》2008年第9期675-678,共4页Chinese Journal of Practical Pediatrics

基　　金：973国家重点基础研究发展规划项目-"中国人口出生缺陷的遗传与环境可控性研究(2001CB510306)"二级子课题"先天性智力低下的基础和干预研究(2001BA703B03)";广东省科技厅计划项目GC-MS技术在遗传代谢缺陷病诊断中的应用研究(2004B36001040)

摘　　要：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 of molecular diagnosis of the disease by analyzing the gene mutations in 19 suspected patient of NICCD. Methods Fourteen mutation areas were screened by polymerase chain reaction combined with DNA direct sequencing in 19 patients. Results 1. In those 19 patients,7 patients were SLC25A13 gene homozygotes of 851 - 854del （ type I mutation） and 1 patient was heterozygote of type I mutation and IVS6 ＋ 5G 〉 A （ type X mutation） ;4 patients were found to be type I mutation on one allele,2 patients were type X mutation on one allele. 2. Type I mutation accounted for 86. 4% （19/22） and type X mutation 13. 6% （3/22）. Conclusion 1. In this study,8 of 19 patients are homozygotes or heterozygote of SLC25A13 gene mutations, which meant they were NICCD patients. It suggests that NICCD should be suspected in patients with jaundice, liver disfunction, hypoglycemia and/or hypoprotein with un- known reason. 2. Type I mutation is a prevalent mutation. 3. PCR-DNA sequencing is a practical and feasible way of detecting SLC25A13 gene mutation and of making diagnosis.

关 键 词：SLC25A13 基因突变 NICCD 黄疸 低血糖 低蛋白血症 半乳糖血症 婴儿肝炎综合征 

分 类 号：R72[医药卫生—儿科]