Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients
The Fabry disease is caused by mutations in the gene (GLA) that encodes the enzyme α-galactosidase A (α-Gal A). More than 500 pathologic variants of GLA have already been described, most of them are family-specific. In southern Brazil, a frequent single-base deletion (GLA 30delG) was identified amon...
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2014-01-01
|
| Series: | Molecular Genetics and Metabolism Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426914000597 |
| _version_ | 1819051777914306560 |
|---|---|
| author | Dayse Oliveira de Alencar Cristina Netto Patricia Ashton-Prolla Roberto Giugliani Ândrea Ribeiro-dos-Santos Fernanda Pereira Ursula Matte Ney Santos Sidney Santos |
| author_facet | Dayse Oliveira de Alencar Cristina Netto Patricia Ashton-Prolla Roberto Giugliani Ândrea Ribeiro-dos-Santos Fernanda Pereira Ursula Matte Ney Santos Sidney Santos |
| author_sort | Dayse Oliveira de Alencar |
| collection | DOAJ |
| description | The Fabry disease is caused by mutations in the gene (GLA) that encodes the enzyme α-galactosidase A (α-Gal A). More than 500 pathologic variants of GLA have already been described, most of them are family-specific. In southern Brazil, a frequent single-base deletion (GLA 30delG) was identified among four families that do not recognize any common ancestral. In order to investigate the history of this mutation (investigate the founder effect, estimate the mutation age and the most likely source), six gene-flanking microsatellite markers of the X chromosome on the mutation carriers and their parents, 150 individuals from the same population and 300 individuals that compose the Brazilian parental populations (Europeans, Africans and Native Americans) were genotyped. A common haplotype to the four families was identified and characterized as founder. The age was estimated with two statistics software (DMLE 2.2 and ESTIAGE) that agreed with 11 to 12 generations old. This result indicates that the mutation GLA 30delG was originated from a single event on the X chromosome of a European immigrant, during the southern Brazil colonization between 1710 and 1740. |
| first_indexed | 2024-12-21T12:09:20Z |
| format | Article |
| id | doaj.art-8ecb6b795b2f4d559c57de9b1e246850 |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-12-21T12:09:20Z |
| publishDate | 2014-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-8ecb6b795b2f4d559c57de9b1e2468502022-12-21T19:04:37ZengElsevierMolecular Genetics and Metabolism Reports2214-42692014-01-011C41442110.1016/j.ymgmr.2014.09.002Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patientsDayse Oliveira de Alencar0Cristina Netto1Patricia Ashton-Prolla2Roberto Giugliani3Ândrea Ribeiro-dos-Santos4Fernanda Pereira5Ursula Matte6Ney Santos7Sidney Santos8Laboratório de Genética Humana e Médica, Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, PA, BrazilServiço de Genética Médica, Hospital de Clínicas de Porto Alegre, RS, BrazilServiço de Genética Médica, Hospital de Clínicas de Porto Alegre, RS, BrazilServiço de Genética Médica, Hospital de Clínicas de Porto Alegre, RS, BrazilLaboratório de Genética Humana e Médica, Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, PA, BrazilCentro de Terapia Gênica, UAMP, CPE, Hospital de Clínicas de Porto Alegre, RS, BrazilPrograma de Pós-Graduação em Genética e Biologia Molecular, Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, BrazilLaboratório de Genética Humana e Médica, Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, PA, BrazilLaboratório de Genética Humana e Médica, Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, PA, BrazilThe Fabry disease is caused by mutations in the gene (GLA) that encodes the enzyme α-galactosidase A (α-Gal A). More than 500 pathologic variants of GLA have already been described, most of them are family-specific. In southern Brazil, a frequent single-base deletion (GLA 30delG) was identified among four families that do not recognize any common ancestral. In order to investigate the history of this mutation (investigate the founder effect, estimate the mutation age and the most likely source), six gene-flanking microsatellite markers of the X chromosome on the mutation carriers and their parents, 150 individuals from the same population and 300 individuals that compose the Brazilian parental populations (Europeans, Africans and Native Americans) were genotyped. A common haplotype to the four families was identified and characterized as founder. The age was estimated with two statistics software (DMLE 2.2 and ESTIAGE) that agreed with 11 to 12 generations old. This result indicates that the mutation GLA 30delG was originated from a single event on the X chromosome of a European immigrant, during the southern Brazil colonization between 1710 and 1740.http://www.sciencedirect.com/science/article/pii/S2214426914000597Fabry diseaseFounder effectGLA gene30delG mutationBrazil |
| spellingShingle | Dayse Oliveira de Alencar Cristina Netto Patricia Ashton-Prolla Roberto Giugliani Ândrea Ribeiro-dos-Santos Fernanda Pereira Ursula Matte Ney Santos Sidney Santos Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients Molecular Genetics and Metabolism Reports Fabry disease Founder effect GLA gene 30delG mutation Brazil |
| title | Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients |
| title_full | Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients |
| title_fullStr | Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients |
| title_full_unstemmed | Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients |
| title_short | Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients |
| title_sort | fabry disease evidence for a regional founder effect of the gla gene mutation 30delg in brazilian patients |
| topic | Fabry disease Founder effect GLA gene 30delG mutation Brazil |
| url | http://www.sciencedirect.com/science/article/pii/S2214426914000597 |
| work_keys_str_mv | AT dayseoliveiradealencar fabrydiseaseevidenceforaregionalfoundereffectoftheglagenemutation30delginbrazilianpatients AT cristinanetto fabrydiseaseevidenceforaregionalfoundereffectoftheglagenemutation30delginbrazilianpatients AT patriciaashtonprolla fabrydiseaseevidenceforaregionalfoundereffectoftheglagenemutation30delginbrazilianpatients AT robertogiugliani fabrydiseaseevidenceforaregionalfoundereffectoftheglagenemutation30delginbrazilianpatients AT andrearibeirodossantos fabrydiseaseevidenceforaregionalfoundereffectoftheglagenemutation30delginbrazilianpatients AT fernandapereira fabrydiseaseevidenceforaregionalfoundereffectoftheglagenemutation30delginbrazilianpatients AT ursulamatte fabrydiseaseevidenceforaregionalfoundereffectoftheglagenemutation30delginbrazilianpatients AT neysantos fabrydiseaseevidenceforaregionalfoundereffectoftheglagenemutation30delginbrazilianpatients AT sidneysantos fabrydiseaseevidenceforaregionalfoundereffectoftheglagenemutation30delginbrazilianpatients |