Population analysis of the GLB1 gene in South Brazil

Genetics and Molecular Biology

Volumn 34, Issue 1, 2011, Pages 45-48

  Baiotto, Cléia ^a,b   Sperb, Fernanda ^a,b   Matte, Ursula ^b   da Silva, Cláudia Dornelles ^b   Sano, Renata ^b   Coelho, Janice Carneiro ^b   Giugliani, Roberto ^a,b  

^a FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^b HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

Author keywords

Beta galactosidase; Founder effect; GLB1 gene; GM1 gangliosidosis; Linkage disequilibrium

Indexed keywords

BETA GALACTOSIDASE;

ALLELE; ARTICLE; BLOOD ANALYSIS; BRAZIL; CONSANGUINITY; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; FOUNDER EFFECT; GENE FREQUENCY; GENE INSERTION; GENE LINKAGE DISEQUILIBRIUM; GENETIC EPIDEMIOLOGY; GENETIC IDENTIFICATION; GENETIC PREDISPOSITION; GENETIC RISK; GM1 GANGLIOSIDOSIS; HAPLOTYPE; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMAN; LYSOSOME STORAGE DISEASE; MUTATIONAL ANALYSIS; POPULATION GENETICS; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 79851481390     PISSN: 14154757     EISSN: 16784685     Source Type: Journal    
DOI: 10.1590/S1415-47572011000100009     Document Type: Article

References (26)

1. Beattie RM and Harvey D (1992) Extensive and unusual Mongolian blue spots in a child with GM1 gangliosidosis type one. J Royal Soc Med 85:574-575.
2. Brunetti-Pierri N and Scaglia F (2008) GM gangliosidosis: Review of clinical, molecular, and therapeutic aspects. Mol Genet Metab 94:391-396.
3. Caciotti A, Donati MA, Boneh A, d'Azzo A, Federico A, Parini R, Antuzzi D, Bardelli T, Nosi D, Kimonis V, et al. (2005) Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1- gangliosidosis. Hum Mutat 25:285-292.
4. Callahan JW (1999) Molecular basis of GM1 Gangliosidosis and Morquio disease type B. Structure-function studies of β-galactosidase and the nonlysosomal [1]-galactosidase-like protein. Biochim Biophys Acta 1445:85-103.
5. Giugliani R, Jackson M, Skinner SJR, Vimal CM, Fensom AH, Fahmy N, Sjövall A and Benson PF (1987) Progressive mental regression in siblings with Morquio's disease type B (MPS IV B). Clin Genet 32:313-325.
6. Hilson WL, Okamura-Oho Y, Zhang S, Clarke JTR, Whelan DJ and Callahan JW (1995) Expression studies of two mutations in β-galactosidase that result in GM1 gangliosidosis. Am J Hum Genet 57:A180.
7. Lenicker HM, Agius PV, Young EP and Montalto SPA (1997) Infantile generalized GM1 gangliosidosis: High incidence in the Maltese Islands. J Inher Metab Dis 20:723-724.
8. Mayer FQ, Pereira FS, Fensom AH, Slade C, Matte U and Giugliani R (2009) New GLB1 mutation in siblings with Morquio type B disease presenting with mental regression. Mol Genet Metab 96:148.
9. Meikle P, Hopwood JJ, Clague AE and Carey WF (1999) Prevalence of lysosomal storage disorders. JAMA 281:249-254.
10. Miller SA, Dykes DD and Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells.Nucleic Acids Res 16:1215.
11. Morreau H, Galjart NJ, Gillemans N, Willemsen R, van der Horst GT and d'Azzo A (1989) Alternative splicing of beta-galactosidase mRNA generates the classic lysosomal enzyme and a beta-galactosidase-related protein. J Biol Chem 264:20655-20663.
12. Morrone A, Bardelli T, Donati MA, Giorgi M, Di Rocco R, Gatti. R, Taddeucci G, Ricci R, d'Azzo A and Zammarchi E (1997) Identification of new mutations in six Italian patients affected by a variant form of infantile GM1 gangliosidosis with severe cardiomiopathy. Am J Hum Genet 61:A528.
13. Morrone A, Bardelli T, Donati MA, Giorgi M, Di Rocco M, Gatti R, Parini R, Ricci R, Taddeucci G, D'Azzo A, et al. (2000) β-galactosidase gene mutation affecting the lysosomal enzyme and the elastin-binding protein in GM1 gangliosidosis patients with cardiac involvement. Hum Mutat 15:354-366.
14. Orita M, Iwahana H, Kanazawa H, Hayashi K and Sekiya T (1989) Detection of polymorphism of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 86:2766-2770.
15. Rozas J and Rozas R (2000) DnaSP v. 3.0: An integrated program for molecular population genetics and molecular evolution analysis. Bioinformatics 15:174-175.
16. Risch N, Tang H, Katzenstein H and Ekstein J (2003) Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection. Am J Hum Genet 72:812-822.
17. Santamaria R, Chabas A, Coll MJ, Miranda CS, Vilageliu L and Grinberg D (2006) Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis. Hum Mutat 27:1060.
18. Santamaria R, Blanco M, Chabas A, Grinberg D and Vilageliu L (2007a) Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America. Clin Genet 71: 273-279.
19. Santamaria R, Chabas A, Callahan JW, Grinberg D and Vilageliu L (2007b) Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients. J Lipid Res 48: 2275-2282.
20. Santana da Silva LC, Carvalho TS, da Silva FB, Morari L, Fachel AA, Pires R, Refosco LF, Desnick RJ, Giugliani R and Saraiva Pereira ML (2003) Molecular characterization of phenylketonuria in South Brazil. Mol Genet Metab 79:17- 24.
21. Severini MH, Silva CMD, Sopelsa A, Coelho J and Giugliani R (1999) High frequency of type 1 GM1 gangliosidosis in southern Brazil. Clin Genet 56:168-169.
22. Silva CMD, Severini MH, Sopelsa A, Coelho JC, Zaha A, d'Azzo A and Giugliani R (1999) Six novel β-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis. Hum Mutat 13:401-409.
23. Sinigerska I, Chandler D, Vaghjiani V, Hassanova I, Gooding R, Morrone A, Kremensky I and Kalaydjieva L (2006) Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population. Mol Genet Metab 88:93-95.
24. Tamura K, Dudley J, NeiMand Kumar S (2007) MEGA4: Molecular Evolutionary Genetics Analysis (MEGA) software v. 4.0. Mol Biol Evol 24:1596-1599.
25. Takano T and Yamanouchi Y (1993) Assignment of human betagalactosidase- A gene to 3p21.33 by fluorescence in situ hybridization. Hum Genet 92:403-404.
26. Zhang S, Bagshaw R, Hilson W, Oho Y, Hinek A, Clarke JTR, Hinek A and Callahan JW (2000) Characterization of β-galactosidase mutations Asp332 → Asn and Arg148 → Ser,and a polymorphism, Ser532 → Gly, in a case of GM1 gangliosidosis. Biochem J 348:621-632.