Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2011 Jan;34(1):45-8.
doi: 10.1590/S1415-47572011000100009. Epub 2011 Mar 1.

Population analysis of the GLB1 gene in South Brazil

Cléia Baiotto  1 , Fernanda Sperb, Ursula Matte, Cláudia Dornelles da Silva, Renata Sano, Janice Carneiro Coelho, Roberto Giugliani
Affiliations

Population analysis of the GLB1 gene in South Brazil

Cléia Baiotto et al. Genet Mol Biol. 2011 Jan.

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.

Keywords: GLB1 gene; GM1 gangliosidosis; beta-galactosidase; founder effect; linkage disequilibrium.

PubMed Disclaimer

References

    1. Beattie RM, Harvey D. Extensive and unusual Mongolian blue spots in a child with GM1 gangliosidosis type one. J Royal Soc Med. 1992;85:574–575. - PMC - PubMed
    1. Brunetti-Pierri N, Scaglia F. GM gangliosidosis: Review of clinical, molecular, and therapeutic aspects. Mol Genet Metab. 2008;94:391–396. - PubMed
    1. Caciotti A, Donati MA, Boneh A, d’Azzo A, Federico A, Parini R, Antuzzi D, Bardelli T, Nosi D, Kimonis V, et al. Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. Hum Mutat. 2005;25:285–292. - PubMed
    1. Callahan JW. Molecular basis of GM1 Gangliosidosis and Morquio disease type B. Structure-function studies of β-galactosidase and the nonlysosomal β-galactosidase-like protein. Biochim Biophys Acta. 1999;1445:85–103. - PubMed
    1. Giugliani R, Jackson M, Skinner SJR, Vimal CM, Fensom AH, Fahmy N, Sjövall A, Benson PF. Progressive mental regression in siblings with Morquio’s disease type B (MPS IV B) Clin Genet. 1987;32:313–325. - PubMed