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Abstract

Background: Familial hypercholesterolemia (FH) is an autosomal dominant disorder caused by defects in LDLR and leads to the elevation of blood cholesterol levels. The worldwide prevalence of the disease is 1:500 and 1 in a million for heterozygous and homozygous respectively. Recently, the Arab allele has emerged as a potential founder mutation. Objectives: The aims of this study are to develop a rapid diagnostic assay to screen for the Arab allele. Methods: Using RFLP, ARMS-PCR, and High Resolution Melt (HRM) 150 hypercholesterolemic (HC) patients from Salmaniya Medical Complex (Bahrain) were screened for the presence of the Arab allele mutation in their genomic DNA. Positive and negative controls were always run along with the samples. Results: No mutations were found among the screened volunteers and the Arab allele was not detected in the samples screened using any of the techniques described. Conclusion: Feasibility of screening using RFLP, ARMS-PCR, and HRM as a rapid diagnostic assay for the Arab allele detection was demonstrated. These assays are cost-effective in comparison to sequencing of whole LDLR gene (18 exons and 17 introns) and should be considered as a priority for any screening protocol. Ultimately, screening for FH requires the construction of all known Arab-specific mutations in a chip.

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/content/papers/10.5339/qfarf.2012.BMPS15
2012-10-01
2020-09-23
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http://instance.metastore.ingenta.com/content/papers/10.5339/qfarf.2012.BMPS15
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