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Population analysis of the GLB1 gene in South Brazil
| Content Provider | Scientific Electronic Library Online (SciELO) |
|---|---|
| Author | Baiotto, Cléia Sperb, Fernanda Matte, Ursula Silva, Cláudia Dornelles da Sano, Renata Coelho, Janice Carneiro Giugliani, Roberto |
| Abstract | Infantile GM1 gangliosidosis is caused by the absence or reduction of lysosomal beta-galactosidase activity. Studies conducted in Brazil have indicated that it is one of the most frequent lysosomal storage disorders in the southern part of the country. To assess the incidence of this disorder, 390 blood donors were tested for the presence of two common mutations (1622-1627insG and R59H) in the GLB1 gene. Another group, consisting of 26 GM1 patients, and the blood donors were tested for the presence of two polymorphisms (R521C and S532G), in an attempt to elucidate whether there is a founder effect. The frequencies of the R59H and 1622-1627insG mutations among the GM1 patients studied were 19.2% and 38.5%, respectively. The frequency of polymorphism S532G was 16.7%, whereas R521C was not found in the patients. The overall frequency of either R59H or 1622-1627insG was 57.7% of the disease-causing alleles. This epidemiological study suggested a carrier frequency of 1:58. Seven different haplotypes were found. The 1622-1627insG mutation was not found to be linked to any polymorphism, whereas linkage disequilibrium was found for haplotype 2 (R59H, S532G) (p < 0.001). These data confirm the high incidence of GM1 gangliosidosis and the high frequency of two common mutations in southern Brazil. |
| Related Links | http://www.scielo.br/scielo.php?script=sci_abstract&pid=S1415-47572011000100009&lng=en&nrm=iso http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000100009&lng=en&nrm=iso |
| Starting Page | 45 |
| Ending Page | 48 |
| Page Count | 4 |
| File Format | |
| ISSN | 14154757 |
| DOI | 10.1590/S1415-47572011000100009 |
| Journal | Genetics and Molecular Biology |
| Issue Number | 1 |
| Volume Number | 34 |
| Language | English |
| Publisher | Sociedade Brasileira de Genética |
| Publisher Date | 2011-01-01 |
| Publisher Institution | Universidade Federal do Rio Grande do Sul Programa de Pós-Graduação em Genética e Biologia Molecular Hospital de Clínicas de Porto Alegre Centro de Pesquisa Experimental Hospital de Clínicas de Porto Alegre Serviço de Genética Médica |
| Publisher Place | Brasil |
| Access Restriction | Open |
| Subject Keyword | GM1 gangliosidosis Beta-galactosidase GLB1 gene Founder effect Linkage disequilibrium |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Molecular Biology |
