Repositório Científico do Instituto Nacional de Saúde >
Departamento de Genética Humana >
DGH - Artigos em revistas internacionais >

Please use this identifier to cite or link to this item: http://hdl.handle.net/10400.18/158

Título: Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity
Autor: Coutinho, Maria Francisca
Encarnação, M.
Gomes, R.
Da Silva Santos, L.
Martins, S.
Sirois-Gagnon, D.
Bargal, R.
Filocamo, M.
Raas-Rothschild, A.
Tappino, B.
Laprise, C.
Curyg, G.K.
Schwartz, I.
Artigalás, O.
Prata, M.
Alves, Sandra
Palavras-chave: c.3503_3504delTC
Common origin
Haplotypic analysis
Mucolipidosis
Doenças Genéticas
Issue Date: Sep-2010
Editora: Wiley
Citação: Clin Genet. 2010 Sep. 29. doi: 10.1111/j.1399-0004.2010.01539.x
Resumo: Mucolipidosis II (ML II alpha/beta), or I-cell disease, is a rare genetic disease in which activity of the uridine diphosphate (UDP)-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase) is absent. GlcNAc-phosphotransferase is a multimeric enzyme encoded by two genes, GNPTAB and GNPTG. A spectrum of mutations in GNPTAB has been recently reported to cause ML II alpha/beta. Most of these mutations were found to be private or rare. However, the mutation c.3503_3504delTC has been detected among Israeli and Palestinian Arab-Muslim, Turkish, Canadian, Italian, Portuguese, Irish traveller and US patients. We analysed 44 patients who were either homozygous or compound heterozygous for this deletion (22 Italians, 8 Arab-Muslims, 1 Turk, 3 Argentineans, 3 Brazilians, 2 Irish travellers and 5 Portuguese) and 16 carriers (15 Canadians and 1 Italian) for three intragenic polymorphisms: c.-41_-39delGGC, c.18G>A and c.1932A>G as well as two microsatellite markers flanking the GNPTAB gene (D12S1607 and D12S1727). We identified a common haplotype in all chromosomes bearing the c.3503_3504delTC mutation. In summary, we showed that patients carrying the c.3503_3504delTC deletion presented with a common haplotype, which implies a common origin of this mutation. Additionally, the level of diversity observed at the most distant locus indicates that the mutation is relatively ancient (around 2063 years old), and the geographical distribution further suggests that it probably arose in a peri-Mediterranean region.
Descrição: Versão impressa: Clin Genet. 2011 Sep;80(3):273-280
Arbitragem científica: yes
URI: http://hdl.handle.net/10400.18/158
Versão do Editor: http://onlinelibrary.wiley.com/doi/10.1111/j.1399-0004.2010.01539.x/full
Appears in Collections:DGH - Artigos em revistas internacionais

Files in This Item:

File Description SizeFormat
Origin and spread of a common deletion causing mucolipidosis type II.pdf634,68 kBAdobe PDFView/Open
Restrict Access. You can request a copy!
Statistics
FacebookTwitterDeliciousLinkedInDiggGoogle BookmarksMySpaceOrkut
Formato BibTex mendeley Endnote Logotipo do DeGóis 

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

 

  © 2010 www.insa.pt - Todos os direitos reservados | Feedback Ministério da Saúde

Estamos no RCAAP Governo Português separator Ministério da Educação e Ciência  Fundação para a Ciência e a Tecnologia

Financiado por:

POS_C UE