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| Salazar,L.A.; Cavalli,S.A.; Hirata,M.H.; Diament,J.; Forti,N.; Giannini,S.D.; Nakandakare,E.R.; Bertolami,M.C.; Hirata,R.D.C.. |
| Familial hypercholesterolemia (FH) is a metabolic disorder inherited as an autosomal dominant trait characterized by an increased plasma low-density lipoprotein (LDL) level. The disease is caused by several different mutations in the LDL receptor gene. Although early identification of individuals carrying the defective gene could be useful in reducing the risk of atherosclerosis and myocardial infarction, the techniques available for determining the number of the functional LDL receptor molecules are difficult to carry out and expensive. Polymorphisms associated with this gene may be used for unequivocal diagnosis of FH in several populations. The aim of our study was to evaluate the genotype distribution and relative allele frequencies of three... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Familial hypercholesterolemia; DNA polymorphism; Atherosclerosis; Genetics; LDL receptor. |
| Ano: 2000 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000001100006 |
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| Alberto,F.L.; Figueiredo,M.S.; Zago,M.A.; Araújo,A.G.; Dos-Santos,J.E.. |
| Familial hypercholesterolemia (FH) is a common autosomal disorder that affects about one in 500 individuals in most Western populations and is caused by a defect in the low-density-lipoprotein receptor (LDLr) gene. In this report we determined the molecular basis of FH in 59 patients from 31 unrelated Brazilian families. All patients were screened for the Lebanese mutation, gross abnormalities of the LDLr gene, and the point mutation in the codon 3500 of the apolipoprotein B-100 gene. None of the 59 patients presented the apoB-3500 mutation, suggesting that familial defective ApoB-100 (FDB) is not a major cause of inherited hypercholesterolemia in Brazil. A novel 4-kb deletion in the LDLr gene, spanning from intron 12 to intron 14, was characterized in one... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Familial hypercholesterolemia; LDL receptor gene; Lebanese mutation; Haplotype analysis; ApoB-100 gene; Alu sequences. |
| Ano: 1999 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1999000600009 |
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