Citrin 缺陷导致的新生儿肝内胆汁淤积症患儿SLC25A13基因突变分析

doi:10.11852/zgetbjzz2017-25-02-03

中国儿童保健杂志 ›› 2017, Vol. 25 ›› Issue (2): 117-120.DOI: 10.11852/zgetbjzz2017-25-02-03

Citrin 缺陷导致的新生儿肝内胆汁淤积症患儿SLC25A13基因突变分析

白欣立¹,张亚男¹,王小康¹,张会丰¹,李英超²

河北医科大学第二医院1 儿科;
2 小儿外科,河北石家庄 050000

收稿日期:2016-09-17 发布日期:2017-02-10 出版日期:2017-02-10
作者简介:白欣立(1965-),女,河北人,副教授,硕士生导师,主要研究方向为小儿遗传及消化。
基金资助:
河北省医学科学研究重点课题(20150239)

Genetic analysis on SLC25A13 gene in children with neonatal intrahepatic cholestasis caused by citrin deficiency

BAI Xin-li¹,ZHANG Ya-nan¹,WANG Xiao-kang¹,ZHANG Hui-feng¹,LI Ying-chao²

1 Department of Pediatrics;
2 Department of Pediatric Surgery,Second Hospital of Hebei Medical University,Shijiazhuang,Hebei 050000,China

Received:2016-09-17 Online:2017-02-10 Published:2017-02-10

摘要/Abstract

摘要： 目的分析citrin 缺陷导致的新生儿肝内胆汁淤积症(NICCD)患儿SLC25A13基因突变特点。方法抽取42例胆汁淤积性肝病患儿血液DNA,应用PCR 扩增和测序进行SLC25A13 基因突变分析。结果 7例患儿诊断为NICCD,其中2例患儿为纯合突变,均为c.851_854delGTAT(p.Met284fs)/c.851_854delGTAT(p.Met284fs);其它5 例患儿为复合杂合突变,分别为c.851_854delGTAT(p.Met284fs)/c.754G>A(p.Glu252Lys);g.IVS11+1G>A /g.IVS16ins3kb; c.851_854delGTAT(p.Met284fs)/g.IVS6+5G>A;c.G1064G>A(p.Arg355Gln)/c.G1157G>T (p.Gly386Val);c.1078C>T(p.Arg360Term)/c.IVS4+6A>G。结论 7例患儿的14个突变单链中,6个单链发生c.851_854delGTAT(p.Met284fs)突变,其在14个突变单链中的比率为42.8%(6/14),c.851_854delGTAT(p.Met284fs)为本组SLC25A13 基因主要突变(42.8%)类型,基因检测分析有助于NICCD 的诊断。

关键词: SLC25A13基因, 新生儿肝内胆汁淤积症, citrin缺陷

Abstract: Objective To investigate genetic features of SLC25A13 gene with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). Methods Genomic DNA was extracted from peripheral blood leukocytes in 42 patients with idiopathic cholestasis.Polymerase chain reaction,direct sequencing and genetic analysis were performed using specific primers from 18 exons of SLC25A13 gene. Results 7 patients were diagnosed with NICCD,of which two patients were homozygous 851del4 mutation:c.851_854delGTAT (p.Met284fs) / c.851_854delGTAT (p.Met284fs).Other five patients were compound heterozygous mutations:c.851_854delGTAT (p.Met284fs) / c.754G>A (p.Glu252Lys);g.IVS11+1G>A /g.IVS16ins3kb;c.851_854delGTAT (p.Met284fs) / g.IVS6+5G>A; c.G1064G>A (p.Arg355Gln) / c.G1157G>T (p.Gly386Val); c.1078C>T (p.Arg360Term) / c.IVS4+6A>G. Conclusion c.851_854delGTAT (p.Met284fs) are detected in 6 out of 14 SLC25A13 gene mutant alleles,with a mutation rate of 42.8% (6/14) in 7 patients with NICCD.It is the major mutation (42.8%) in SLC25A13 gene with NICCD patients.Genetic analysis for SLC25A13 gene are helpful to the diagnoses of NICCD.

Key words: SLC25A13 gene, neonatal intrahepatic cholestasis, citrin deficiency

中图分类号:

R179

白欣立,张亚男,王小康,张会丰,李英超. Citrin 缺陷导致的新生儿肝内胆汁淤积症患儿SLC25A13基因突变分析[J]. 中国儿童保健杂志, 2017, 25(2): 117-120.

BAI Xin-li,ZHANG Ya-nan,WANG Xiao-kang,ZHANG Hui-feng,LI Ying-chao. Genetic analysis on SLC25A13 gene in children with neonatal intrahepatic cholestasis caused by citrin deficiency[J]. journal1, 2017, 25(2): 117-120.

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Citrin 缺陷导致的新生儿肝内胆汁淤积症患儿SLC25A13基因突变分析

Genetic analysis on SLC25A13 gene in children with neonatal intrahepatic cholestasis caused by citrin deficiency

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