【摘要】 目的用变性高效液相色谱(denaturing high-performance liquid chromatography,DHPLC)分析和DNA测序筛查甲基化CpG结合蛋白2(methyl-CpG-binding protein 2,MECP2)基因突变,评价DHPLC检测MECP2基因变异的可用性。方法建立检测MECP2基因变异的DHPLC分析法,对52例孤独症患儿MECP2基因3个外显子分为8个片段进行PCR扩增,扩增产物用DHPLC筛查,并以DNA测序验证。结果在Exon 4-1、4-2、4-3、4-4片段,分别发现有17个、2个、2个和1个样本峰型异常,DNA测序分析发现为6种MECP2基因变异。结论DHPLC技术可用于检测MECP2基因变异,方法敏感、重复性好。更多还原

【Abstract】 Objective To investigate mutations of the methyl-CpG-binding protein 2 gene(MECP2) by denaturing high-performance liquid chromatography(DHPLC) and DNA sequencing.In this experiment,we aimed to explore the evaluation of DHPLC detection of the availability of MECP2 gene mutation.Methods The establishment of DHPLC detection of the MECP2 gene mutation analysis,3 exons of MECP2 gene is divided into eight fragments were PCR amplified in 52 cases of children with autism,PCR amplification products for DHPLC screening,The positive samples of screenings were detected by DNA sequencing.Results 17 samples in Exon4-1,2 samples in Exon4-2,2 samples in Exon4-3 and 1 sample in Exon4-4 were detected with distinct elution peaks when compared to homozygous wild-type peaks.6 different variants were detected by DNA sequencing.Conclusions DHPLC technology can be used to detect MECP2 gene mutation,which is sensitive and reproducible.更多还原