新疆两例尼曼-皮克病家系分析

Report of 2 cases of Niemann-Pick disease in Xinjiang Uygur Autonomous Region

目的对2例老年C型尼曼-皮克病(Niemann-Pick disease type C,NPC)患者及家系的NPC1和NPC2基因进行测序,分析基因型与表型关系。方法采集2例NPC患者及家系外周血,提取基因组DNA,进行引物设计扩增,直接基因测序检测。结果2例患者在NPC1基因6号外显子发现1个杂合子位点A644G(H215R),导致第215位氨基酸由His突变为Arg;18号外显子发现1个杂合子位点N931N(C2793T),氨基酸编码没有改变;2例家系其他成员未发现异常。结论 NPC患者具有典型NPC临床特征,在基因水平上发现,相关基因突变位点或新的突变位点,但家系基因特征不明显。因此,对于老年NPC患者或存在其他致病因素。

Objective To report 2 cases of type C Niemann-Pick （NPC） disease and anzlyze the re- lation between genotypes and phenotypes of NPC1 and NPC2 genes. Methods Genomic DNA was extracted from peripheral blood samples taken from the 2 cases and their family members and am- plified. The sequences of NPC1 and NPC2 genes were detected. Results A644G （H215R） was de- tected in the NPC1 gene at the heterozygote site in 2 cases,which led to the 215th amino acid mu- tated from His to Arg. N931N （C2793T） was detected in exon 18 at the heterozygote site with no change of amino acid code. No abnormal change of the NPC1 and NPC2 genes was observed in other family members of the 2 cases. Conclusion The clinical features are typical in patients with Niemann-Piek disease with gene mutations at the gene level but without significant family gene features,indicating that other pathogenic factors may exist in elderly patients with Niemann-Pick disease.