alexa Abstract | Genetic Basis for Diagnosis of Novel Mutation of LDL Receptor Gene

International Journal of Collaborative Research on Internal Medicine & Public Health
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Background: The low density lipoprotein (LDL) receptor is a cell-surface protein that regulates plasma cholesterol by specific uptake of LDL particles from the plasma. Familial hypercholesterolemia (FH) is autosomal dominant hypercholesterolemias that predispose to premature coronary artery diseases. Familial hypercholesterolemia is caused by sequence variations in LDL receptor gene.

Aim & Objective: The molecular analysis of low density lipoprotein for diagnosis of familial hypercholesterolemia (FH), an autosomal dominant disease caused by a multitude of LDL receptor (LDLR) gene mutations and confirmation of these mutations by DNA sequencing.

Methods: Polymerase chain reaction (PCR) amplification of type specific primers allowed the rapid detection of point mutations in exon 3, 4, 9, and 14 of the low density lipoprotein receptor gene in hypercholesterolemia patients. In our study we screened 120 patients with hypercholesterolemia by lipid profiles after twelve hours fasting and with family history of premature coronary heart diseases.

Results: Genomic DNA was extracted from blood samples of an apparently healthy control group and hypercholesterolemia patients with LDL > 160mg/dL and clinical features of FH to detect mutations in exons 3, 4, 9, and 14 of the LDLR gene, with modification in the technique by using type-specific primers.

Discussion/ Conclusions: The frequency of heterozygous FH was noted that 35% were classical and 65% probable cases were observed with mutation at exon 3 and 4. The mutations reported were further confirmed by DNA sequencing.

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Author(s): Samia Perwaiz Khan Rubina Ghani Khwaja Zafar Ahmed Zia Yaqub


HeFH heterozygous familial hypercholesterolemia, CAD coronary artery diseases, PCR Polymerase chain reaction, LDLR low density lipoprotein receptor, common mutation, Exons 3 & 4

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