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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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| Moysés,C.B.; Moreira,E.S.; Asprino,P.F.; Guimarães,G.S.; Alberto,F.L.. |
| Hereditary hemochromatosis (HH) is a common autosomal disorder of iron metabolism mainly affecting Caucasian populations. Three recurrent disease-associated mutations have been detected in the hemochromatosis gene (HFE): C282Y, H63D, and S65C. Although HH phenotype has been associated with all three mutations, C282Y is considered the most relevant mutation responsible for hemochromatosis. Clinical complications of HH include cirrhosis of the liver, congestive cardiac failure and cardiac arrhythmias, endocrine pancreatic disease, which can be prevented by early diagnosis and treatment. Therefore, a reliable genotyping method is required for presymptomatic diagnosis. We describe the simultaneous detection of the C282Y, H63D and S65C mutations in the... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Hemochromatosis; Single nucleotide polymorphism; Quenched-FRET; Real-time PCR. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008001000001 |
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