Population analysis of the GLB1 gene in South Brazil.

[gm1 gangliosidosis]

Infantile GM 1 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 -1627 insG and R 59 H ) in the GLB 1 gene . Another group , consisting of 26 GM 1 patients , and the blood donors were tested for the presence of two polymorphisms (R 521 C and S 532 G ), in an attempt to elucidate whether there is a founder effect . The frequencies of the R 59 H and 1622 -1627 insG mutations among the GM 1 patients studied were 19 .2 % and 38 .5 %, respectively . The frequency of polymorphism S 532 G was 16 .7 %, whereas R 521 C was not found in the patients . The overall frequency of either R 59 H or 1622 -1627 insG 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 -1627 insG mutation was not found to be linked to any polymorphism , whereas linkage disequilibrium was found for haplotype 2 (R 59 H , S 532 G ) (p < 0 .001 ). These data confirm the high incidence of GM 1 gangliosidosis and the high frequency of two common mutations in southern Brazil .

Diseases
Validation

Diseases presenting "reduction of lysosomal" symptom

gm1 gangliosidosis

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