Uncommon allele in APO AI-CIII-AIV gene cluster in a family with congenital generalized lipodystrophy

Detalhes bibliográficos
Autor(a) principal: Novak,Estela Maria
Data de Publicação: 1997
Outros Autores: Longui,Carlos Alberto, Bydlowski,Sergio Paulo
Tipo de documento: Relatório
Idioma: eng
Título da fonte: São Paulo medical journal (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801997000600007
Resumo: Congenital generalized lipodystrophy is a rare inherited disease. One of its features is a disturbance in lipid metabolism characterized by hypercholesterolemia and hypertriglyceridemia. A brother and a sister with congenital generalized lipodystrophy, an 8-year old male and a 12-year old female were studied. The mother and a 6-year old brother were healthy. The genetic analysis of Sstl RFLP of the apo Al-CIII-AIV gene cluster showed the presence of the rare Sstl allele (S2) in the patients but not in the healthy mother and brother. As this uncommon allele has been reported to be related to high plasma triglyceride levels, this association could be relevant in explaining in part the hypertriglyceridemia observed in these patients.
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spelling Uncommon allele in APO AI-CIII-AIV gene cluster in a family with congenital generalized lipodystrophyApolipoproteinsCongenital generalized lipodystrophyApo AI-CIII-AIV geneCongenital generalized lipodystrophy is a rare inherited disease. One of its features is a disturbance in lipid metabolism characterized by hypercholesterolemia and hypertriglyceridemia. A brother and a sister with congenital generalized lipodystrophy, an 8-year old male and a 12-year old female were studied. The mother and a 6-year old brother were healthy. The genetic analysis of Sstl RFLP of the apo Al-CIII-AIV gene cluster showed the presence of the rare Sstl allele (S2) in the patients but not in the healthy mother and brother. As this uncommon allele has been reported to be related to high plasma triglyceride levels, this association could be relevant in explaining in part the hypertriglyceridemia observed in these patients.Associação Paulista de Medicina - APM1997-12-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801997000600007Sao Paulo Medical Journal v.115 n.6 1997reponame:São Paulo medical journal (Online)instname:Associação Paulista de Medicinainstacron:APM10.1590/S1516-31801997000600007info:eu-repo/semantics/openAccessNovak,Estela MariaLongui,Carlos AlbertoBydlowski,Sergio Pauloeng2008-10-15T00:00:00Zoai:scielo:S1516-31801997000600007Revistahttp://www.scielo.br/spmjhttps://old.scielo.br/oai/scielo-oai.phprevistas@apm.org.br1806-94601516-3180opendoar:2008-10-15T00:00São Paulo medical journal (Online) - Associação Paulista de Medicinafalse
dc.title.none.fl_str_mv Uncommon allele in APO AI-CIII-AIV gene cluster in a family with congenital generalized lipodystrophy
title Uncommon allele in APO AI-CIII-AIV gene cluster in a family with congenital generalized lipodystrophy
spellingShingle Uncommon allele in APO AI-CIII-AIV gene cluster in a family with congenital generalized lipodystrophy
Novak,Estela Maria
Apolipoproteins
Congenital generalized lipodystrophy
Apo AI-CIII-AIV gene
title_short Uncommon allele in APO AI-CIII-AIV gene cluster in a family with congenital generalized lipodystrophy
title_full Uncommon allele in APO AI-CIII-AIV gene cluster in a family with congenital generalized lipodystrophy
title_fullStr Uncommon allele in APO AI-CIII-AIV gene cluster in a family with congenital generalized lipodystrophy
title_full_unstemmed Uncommon allele in APO AI-CIII-AIV gene cluster in a family with congenital generalized lipodystrophy
title_sort Uncommon allele in APO AI-CIII-AIV gene cluster in a family with congenital generalized lipodystrophy
author Novak,Estela Maria
author_facet Novak,Estela Maria
Longui,Carlos Alberto
Bydlowski,Sergio Paulo
author_role author
author2 Longui,Carlos Alberto
Bydlowski,Sergio Paulo
author2_role author
author
dc.contributor.author.fl_str_mv Novak,Estela Maria
Longui,Carlos Alberto
Bydlowski,Sergio Paulo
dc.subject.por.fl_str_mv Apolipoproteins
Congenital generalized lipodystrophy
Apo AI-CIII-AIV gene
topic Apolipoproteins
Congenital generalized lipodystrophy
Apo AI-CIII-AIV gene
description Congenital generalized lipodystrophy is a rare inherited disease. One of its features is a disturbance in lipid metabolism characterized by hypercholesterolemia and hypertriglyceridemia. A brother and a sister with congenital generalized lipodystrophy, an 8-year old male and a 12-year old female were studied. The mother and a 6-year old brother were healthy. The genetic analysis of Sstl RFLP of the apo Al-CIII-AIV gene cluster showed the presence of the rare Sstl allele (S2) in the patients but not in the healthy mother and brother. As this uncommon allele has been reported to be related to high plasma triglyceride levels, this association could be relevant in explaining in part the hypertriglyceridemia observed in these patients.
publishDate 1997
dc.date.none.fl_str_mv 1997-12-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801997000600007
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801997000600007
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1516-31801997000600007
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Associação Paulista de Medicina - APM
publisher.none.fl_str_mv Associação Paulista de Medicina - APM
dc.source.none.fl_str_mv Sao Paulo Medical Journal v.115 n.6 1997
reponame:São Paulo medical journal (Online)
instname:Associação Paulista de Medicina
instacron:APM
instname_str Associação Paulista de Medicina
instacron_str APM
institution APM
reponame_str São Paulo medical journal (Online)
collection São Paulo medical journal (Online)
repository.name.fl_str_mv São Paulo medical journal (Online) - Associação Paulista de Medicina
repository.mail.fl_str_mv revistas@apm.org.br
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