Abstract

ASSESSMENT OF GENETICS MUTATIONS IN SMPD1, NPC1, NPC2 GENES TO INDUCED NIEMANN–PICK SYNDROME

Shahin Asadi*, Mahsa Jamali, Hamideh Mohammadzadeh and Ali Nazirzadeh

Abstract

In this study we have analyzed 30 people. 10 patients Niemann–Pickdisease and 20 persons control group. The genes SMPD1, NPC1,NPC2, analyzed in terms of genetic mutations made. In this study,people who have genetic mutations were targeted, with nervousdisorders Niemann–Pick disease. In fact, of all people with Niemann–Pick disease.. 10 patients Niemann–Pick disease had a geneticmutations in the genes SMPD1, NPC1, NPC2 Niemann–Pickdisease.Any genetic mutations in the target genes control group, didnot show.

Keywords: Genetic study, Niemann–Pick disease, Mutations the gene SMPD1, NPC1, NPC2, RT-PCR.