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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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