The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations
نویسندگان
چکیده
منابع مشابه
The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations
Familial hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism characterized by high plasma concentrations of low-density lipoprotein cholesterol (LDLc), tendon xanthomas, and increased risk of premature coronary heart disease. FH is one of the most common inherited disorders; there are 10,000,000 people with FH worldwide, mainly heterozygotes. The most common FH cause is mu...
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Background: Familial hypercholesterolemia (FH) is a frequent autosomal dominant disorder of lipoprotein metabolism. This disorder is generally caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B 100 (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. In the present study, we aimed at identifying the common LDLR and APOB gene mutations in an Iran...
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Studies in children and adults have resulted in conflicting evidence in the quest for the answer to the hypothesis that offspring from hypercholesterolemic mothers might have an increased cardiovascular risk. Previous studies might have suffered from limitations such as cohort size and clinical sampling bias. We therefore explored this hypothesis in large cohorts of both subjects with familial ...
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amilial combined hyperlipidemia (FCH) is the most comon genetic cause of hyperlipidemia, affecting approxiately 1% of the population. It was first described in the eattle Myocardial Infarction Study in 1973 (1). This ondition is characterized by variable lipid phenotypes increased levels of triglycerides or cholesterol or both lipids) n the proband and in relatives that may vary within an ndivi...
متن کاملMolecular Diagnosis of Familial Hypercholesterolemia
Abstract Background and objectives: Familial hypercholesterolemia (FH) is an autosomal disorder characterized by increased levels of total cholesterol and low density lipoprotein cholesterol. The FH clinical phenotype has been associated with increased risk of coronary heart disease and premature death. The mutation in LDLR gene in most cases is responsible for FH phenotype. Furthermore, other ...
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ژورنال
عنوان ژورنال: The Application of Clinical Genetics
سال: 2010
ISSN: 1178-704X
DOI: 10.2147/tacg.s8285