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Population analysis of the GLB1 gene in South Brazil

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Population analysis of the GLB1 gene in South Brazil

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Título Population analysis of the GLB1 gene in South Brazil
Autor Baiotto, Cléia Rosani
Sperb, Fernanda
Matte, Ursula da Silveira
Silva, Claudia 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 theGLB1 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.
Contido em Genetics and molecular biology. Ribeirão Preto, SP. Vol. 34, n. 1 (2011), p. 45-48
Assunto beta-Galactosidase
Desequilíbrio de ligação
Gangliosídeos
[en] Beta-galactosidase
[en] Founder effect
[en] GLB1 gene
[en] GM1 gangliosidosis
[en] Linkage disequilibrium
Origem Nacional
Tipo Artigo de periódico
URI http://hdl.handle.net/10183/30549
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