The Beyond Gene. Assessment of Genetics Mutation Gene HPRT1 in induce Lesch-Nyhan Disease

      Аннотация: Today,neurological disorders,neuromuscular disorders are very important in creating. Including neurological disorders, including Lesch–Nyhan syndrome (LNS). Lesch–Nyhan syndrome (LNS) are a neuromuscular disorder that commonly causes a progressive neurodegenerative disease with X-linked inheritance, with the incidence in adulthood, the disease has three abnormal movements,cognitive disorders, psychological disorders known.Lesch–Nyhan syndrome (LNS) is caused by genetic mutations,but also epigenetic factors are critical in inducing the disease. In this study we have analyzed 40 people. 20 Lesch–Nyhan syndrome (LNS) and 20 control group. The gene HPRT1 analyzed in terms of genetic mutation made. In this study,people who have genetic mutation were targeted, with nervous disorders, Lesch–Nyhan syndrome (LNS). In fact, of all people with Lesch–Nyhan syndrome (LNS). 20 Lesch–Nyhan syndrome (LNS) had a genetic mutation in the gene HPRT1 Lesch–Nyhan syndrome (LNS). Any genetic mutations in the target genes control group, did not show.

Ключевые слова: genetic study, Lesch–Nyhan syndrome (LNS), Mutation The Gene HPRT1