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。
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 851de14 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-k5G〉A〉 c. G1064G〉A （p. Arg355Gln） / c. G1157G〉T （p. Gly386Val） 〉 c. 1078C〉T （p. Arg360Term） / c. IVS4-k6A〉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.
出处
《中国儿童保健杂志》
CAS
2017年第2期117-120,127,共5页
Chinese Journal of Child Health Care
基金
河北省医学科学研究重点课题(20150239)
