Ekshyyan O. Analysis of SMN and NAIP genes mutation in families with high risc of spinal muscular atrophy

The dissertation is devote to studing for the molecular basis of pathogenesis of spinal muscular atrophy (SMA). Our data support the thesis that mutations of the telSMN gene could play a major role in determining SMA, because of it's mutations were found in 100% of our patients. There is determined that in SMA patients with gomozygous deletion of telSMN exon 7 only, the remaining telSMN exon 8 was a part of a chimeric cen/telSMN gene. There is established associations large-scale deletion involving SMN exons 7 and 8 and NAIP exon 5 with SMA type I, while chimeric cen/telSMN gene is associated with chronic form of SMA (type II and III). The method for SMA carrier detection based on PCR products of exon 7 of telSMN and cenSMN genes densitometry analysis was proposed. It was shown that mutations of telSMN and NAIP genes analysis is high informative for pre- and postnatal diagnostics and population SMA carrier screening in Ukraine.