Analysis of sequence variations in the LDL receptor gene in Spain: general gene screening or search for specific alterations?

Clinical Chemistry
Sebastian BlesaF Javier Chaves

Abstract

Familial hypercholesterolemia (FH) is a frequent form of autosomal-dominant hypercholesterolemia that predisposes to premature coronary atherosclerosis. FH is caused by sequence variations in the gene coding for the LDL receptor (LDLR). This gene has a wide spectrum of sequence variations, and genetic diagnosis can be performed by 2 strategies. Point variations and large rearrangements were screened along all the LDLR gene (promoter, exons, and flanking intron sequences). We screened a sample of 129 FH probands from the Valencian Community, Spain, and identified 54 different LDLR sequence variations. The most frequent (10% of cases) was 111insA, and 60% of the variants had a frequency as low as 1%. A previously described method for detection of known sequence variations in the Spanish population by DNA array analysis allowed the identification of only approximately 50% of patients with a variant LDLR gene and approximately 40% of the screened samples. Our results indicate that the adequate procedure to identify LDLR sequence variations in outbreed populations should include screening of the entire gene.

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Citations

Sep 10, 2013·Medicina clínica·Cristina Perez-SorianoAna Barbara Garcia-Garcia
Jan 3, 2009·Clinical Biochemistry·Andrew D Laurie, Peter M George
Nov 15, 2008·Journal of the American College of Cardiology·Gail P JarvikArno G Motulsky
Mar 8, 2011·Atherosclerosis·Kuan-Rau ChiouHua-Mei Chang
Oct 28, 2016·Circulation. Cardiovascular Genetics·Rosa M Sánchez-HernándezMiguel Pocovi
Mar 24, 2007·Nature Clinical Practice. Cardiovascular Medicine·Anne K Soutar, Rossi P Naoumova
Jun 19, 2008·The Journal of Clinical Endocrinology and Metabolism·Sebastian BlesaFelipe Javier Chaves

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