Microfluidic Amplification as a Tool for Massive Parallel Sequencing of Familial Hypercholesterolemia Genes
نویسندگان
چکیده
BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant disorder that affects cholesterol metabolism and is an important risk factor for heart disease. Three different genes were causally linked to this disorder: LDLR (low density lipoprotein receptor), APOB [apolipoprotein B (including Ag(x) antigen)], and PCSK9 (proprotein convertase subtilisin/kexin type 9). We evaluated a new amplicon preparation tool for resequencing these genes on next generation sequencing (NGS) platforms.
منابع مشابه
Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes.
BACKGROUND Familial hypercholesterolemia (FH) is an autosomal dominant disorder that affects cholesterol metabolism and is an important risk factor for heart disease. Three different genes were causally linked to this disorder: LDLR (low density lipoprotein receptor), APOB [apolipoprotein B (including Ag(x) antigen)], and PCSK9 (proprotein convertase subtilisin/kexin type 9). We evaluated a new...
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Gene identification represents the first step to a better understanding of the physiological role of the underlying protein and disease pathways, which in turn serves as a starting point for developing therapeutic interventions. Familial hypercholesterolemia is a hereditary metabolic disorder characterized by high low-density lipoprotein cholesterol levels. Hypercholesterolemia is a quantitativ...
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