Three RFLPs upstream of the low density lipoprotein receptor (LDLR) gene
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چکیده
منابع مشابه
Familial Hypercholesterolemia in Iran: A Novel Frameshift Mutation in Low Density Lipoprotein Receptor (LDLR) Gene
Background and Objective: Familial hypercholesterolemia (FH) is an autosomal trait, which is caused by mutations in Low Density Lipoprotein Receptor (LDLR) gene. FH penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. The patients are at risk of premature coronary heart disease (CHD) due to defective LDLR a...
متن کاملfamilial hypercholesterolemia in iran: a novel frameshift mutation in low density lipoprotein receptor (ldlr) gene
background and objective: familial hypercholesterolemia (fh) is an autosomal trait, which is caused by mutations in low density lipoprotein receptor (ldlr) gene. fh penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. the patients are at risk of premature coronary heart disease (chd) due to defective ldlr and hence cho...
متن کاملLow-Density Lipoprotein Receptor (LDLR) Family Orchestrates Cholesterol Homeostasis
The LDLR family of proteins is involved in lipoproteins trafficking. While the role of LDLR in cardiovascular disease has been widely studied, only recently the role of other members of the LDLR proteins in lipoprotein homeostasis and atherosclerosis has emerged. LDLR, VLDLR, and LRPs bind and internalize apoE- and apoB-containing lipoprotein, including LDL and VLDL, and regulate their cellular...
متن کاملA RFLP associated with the low-density lipoprotein receptor gene (LDLR)
SOURCE AND DESCRIPTION OF CLONE: pLDLR-2HHl, a 1.9kb fragment of the 3'end of the LDL receptor c-DNA clone (Yamamoto et al, 1984). POLYMORPHISM: Ncol (CCATGG) identifies invariant bands of 9kb and 7kb, in addition to a simple two allele polymorphism with a band at either 3.4kb (Nl) or 13kb (N2) (Figure).
متن کاملCharacterization of low density lipoprotein receptor (LDLR) gene mutations in Albania
INTRODUCTION Familial hypercholesterolaemia (FH) is a clinical syndrome characterised by elevated serum total cholesterol (TCHOL) levels due to an increase in low-density lipoprotein (LDL) cholesterol, by tendon xanthomata and clinical manifestations of ischaemic heart disease in early life. Typically, it results from mutations in the low-density lipoprotein receptor (LDLR) gene. So far, more t...
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ژورنال
عنوان ژورنال: Nucleic Acids Research
سال: 1989
ISSN: 0305-1048,1362-4962
DOI: 10.1093/nar/17.1.470