Author/Editor		Gornjak-Pogorelc, Barbara
Title		Analiza mutacij pri spinalni mišični atrofiji
Type		monografija
Place		Ljubljana
Publisher		Medicinska fakulteta
Publication year		1999
Volume		str. 49
Language		slo
Abstract		Childhood proximal spinal muscular atrophy SMA is a hereditary autosomal recessive disease with great phenotypic variability. Three clinical types of the disease are known: the Werdnig-Hoffmann disease of SMA type I is the most severe form of the first few months of life. There are two other forms: the intermediate of SMA type II and the Kugelberg-Welander or SMA type III disease, which are both less severe. All three forms have been mapped with the genetic linkage technique to the long arm of the chromosome five, exactly to 5q12.2-13.3. In the year 1995, the determining gene for SMA was discovered with the method of positional cloning. The gene was named SMN (Survival Motor Neurone) gene. There are two copies of the gene. One is the telometric functional gene and the other one is its highly homologous centromeric copy. A homozygous deletion of the exon 7 in the telometric SMN gene was recognised as the primary cause for the disease. Several studies on different populations have reported appearance of such mutation in the majority of the patients regardless of the type of disease. The aim of this study was to examine and analyse the molecular genetic pathology of the SMN gene in patients with spinal muscular atrophy in Slovenia. We wanted to confirm the existence of these molecular changes in Slovenian patients and to assess how this mutation is pread among our population of patients with SMA I, II and III. We introduced a diagnostic test that is capable of distinguishing between the telomeric SMN gene and its centromeric homologous copy. It is also able to show the deletion of exons 7 and 8 of the functional SMN gene. Thus, this test presents a direct molecular genetic diagnostic tool This method was used to test 47 patients with SMA I, II II and IV. (Abstract truncated at 2000 characters).
Descriptors		WERDNIG-HOFFMANN DISEASE MUSCULAR ATROPHY, SPINAL MUTATION GENE DELETION EXONS TELOMERE CENTROMERE POLYMERASE CHAIN REACTION MICROSATELLITE REPEATS PEDIGREE