实用医学杂志2013，Vol.29Issue(4)：526-528,3.DOI:10.3969/j.issn.1006-5725.2013.04.007
二尼曼匹克病家系NPC1和NPC2基因突变检测分析
Detection of the genotypes of the NPC1 and NPC2 genes for adult patients with Niemann-Pick's disease
摘要
Abstract
Objective To detect the genotypes of the NPC1 and NPC2 genes for old adult patients with Niemann-Pick's disease, and to analyze the relationship between phenotype and genotype. Methods The genomic DNA of the patient was extracted from peripheral blood, and the PCR primers of the 25 exons of the NPC1 and 5 exons of the NPC2 genes were designed according to the genbank sequence of NC_000018 and NG_007117 respectively. Each PCR product was purified and sequenced. Results Both patients carried heterozygotes polymorphisms in the coding region including A644G (H215R) and C2793T (N931N) in NPC1 gene. No other heterozygotes and homozygotes were found in NPC1 and NPC2 gene. Conclusions Patients that present typical phenotypes of Niemann-pick' s disease without carrying related mutations or new mutations may caused by other unknown factors.关键词
二尼曼匹克病/NPC1/NPC2Key words
Niemann-pick's disease/ NPC1/ NPC2引用本文复制引用
杨忠伟,冯秀丽,范新平,曹旭东..二尼曼匹克病家系NPC1和NPC2基因突变检测分析[J].实用医学杂志,2013,29(4):526-528,3.
