Rapid detection of 3500Q and 3531 mutations and MspI polymorphism in exon 26 at the apolipoprotein B gene.

doi:10.1002/1098-2825(2001)15:1<35::aid-jcla7>3.0.co;2-p

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Article

Rapid detection of 3500Q and 3531 mutations and MspI polymorphism in exon 26 at the apolipoprotein B gene.

Journal of clinical laboratory analysis - 1 Jan 2001

Cavalli S A, Hirata M H, Hirata R D

Abstract excerpt

Several environmental and genetic factors are associated with high levels of cholesterol. Hypercholesterolemia is the main phenotype of Familial Defective Apolipoprotein B and Familial Hypercholesterolemia that are caused by mutations at the apolipoprotein (apo) B and LDL receptor genes, respectively. Identification of the specific genetic alteration associated with hypercholesterolemia is an important issue in...

Topics

Alleles
Apolipoproteins B
Brazil
Coronary Disease
DNA
Deoxyribonuclease HpaII
Electrophoresis, Agar Gel
Exons
Gene Frequency
Genetic Predisposition to Disease
Humans
Hypercholesterolemia
Mutation
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length

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Identifiers

PMID: 11170232
DOI: 10.1002/1098-2825(2001)15:1<35::aid-jcla7>3.0.co;2-p
PMCID: PMC6808027

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